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  American Journal of Medical Genetics Part A: Volume 194, Issue 1

  Pages: 1-120

  January 2024

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ISSUE INFORMATION

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Table of Contents, Volume 194A, Number 1, January 2024

• Pages: 1-4
• First Published: 19 December 2023

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THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY ROXANNE NELSON

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In Memoriam: John M. Opitz, MD

• Pages: 5-6
• First Published: 19 December 2023

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Friends, Family, and Colleagues Remember Dr. John Opitz

• Pages: 6-7
• First Published: 19 December 2023

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In This Issue

• Page: 8
• First Published: 19 December 2023

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ORIGINAL ARTICLES

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Growth charts in DYRK1A syndrome

Pierre-Louis Lanvin,  Thomas Goronflot,  Bertrand Isidor,  Mathilde Nizon,  Benjamin Durand,  Salima El Chehadeh,  David Geneviève,  Valentin Ruault,  Mélanie Fradin,  Laurent Pasquier,  Julien Thévenon,  Bruno Delobel,  Lydie Burglen,  Alexandra Afenjar,  Laurence Faivre,  Christine Francannet,  Anne-Marie Guerrot,  Alice Goldenberg,  Sandra Mercier,  Delphine Héron,  Daphné Lehalle,  Cyril Mignot,  Isabelle Marey,  Perrine Charles,  Sébastien Moutton,  Stéphane Bézieau,  Allan Bayat,  Amélie Piton,  Marjolaine Willems,  Marie Vincent, 

• Pages: 9-16
• First Published: 22 September 2023

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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

Scott K. Ward,  Alexandrea Wadley,  Chun-hui (Anne) Tsai,  Paul J. Benke,  Lisa Emrick,  Kristen Fisher,  Kimberly M. Houck,  Hongzheng Dai,  Undiagnosed Diseases Network ,  Maria J. Guillen Sacoto,  William Craigen,  Kimberly Glaser,  David R. Murdock,  Luis Rohena,  Karin E. M. Diderich,  Hennie T. Bruggenwirth,  Brendan Lee,  Carlos Bacino,  Lindsay C. Burrage,  Jill A. Rosenfeld, 

• Pages: 17-30
• First Published: 25 September 2023

Correction(s) for this article

• Erratum to “De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities”

  • Volume 194Issue 6American Journal of Medical Genetics Part A
  • First Published online: February 7, 2024

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Early development and adaptive functioning in children with Bardet-Biedl syndrome

Ekaterina Keifer,  Richard L. Berg,  Jesse G. Richardson,  Robert M. Haws, 

• Pages: 31-38
• First Published: 25 September 2023

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A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

Rasha M. Elhossini,  Inas M. Sayed,  Usama Saad Hellal,  Sarah A. M. Mahmoud,  Mona S. Aglan,  Nehal F. Hassib,  Mohamed S. Abdel-Hamid, 

• Pages: 39-45
• First Published: 26 September 2023

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Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7

Zhi-Feng Wu,  Kui-Lin Lv,  Si-Qi Yao,  Zhi Li,  Wang Cheng,  Si Zhang,  Xin-Hai Long,  Hong Guo,  Yu-Ping Zhang, 

• Pages: 46-52
• First Published: 23 August 2023

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CASE REPORTS

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Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16

Andy Drackley,  Lenika De Simone,  Nancy Kuntz,  Safa Rahmani,  Alexander Ing,  Vamshi K. Rao,  Pamela Rathbun,  Kai Lee Yap, 

• Pages: 53-58
• First Published: 04 September 2023

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Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy

Sahar Tulbah,  Nadiah Alruwaili,  Amal Alhashem,  Arwa Aljohany,  Faten Alhadeq,  Dimpna C. Albert Brotons,  Abdullah Alwadai,  Zuhair N. Al-Hassnan, 

• Pages: 59-63
• First Published: 12 September 2023

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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

Bede N. Nriagu,  Lydia S. Williams,  Niambi Brewer,  Lea F. Surrey,  Abhay S. Srinivasan,  Dong Li,  Allison Britt,  James Treat,  T. Blaine Crowley,  Nora O'Connor,  Arupa Ganguly,  David Low,  Maria Queenan,  Theodore G. Drivas,  Elaine H. Zackai,  Denise M. Adams,  Hakon Hakonarson,  Kristen M. Snyder,  Sarah E. Sheppard, 

• Pages: 64-69
• First Published: 13 September 2023

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An atypical Aymé-Gripp phenotype detected by exome sequencing

Martina Caiazza,  Alberto Budillon,  Emanuele Monda,  Giustina Aruta,  Augusto Esposito,  Francesca Del Vecchio Blanco,  Giulio Piluso,  Vincenzo Nigro,  Gioacchino Scarano,  Giuseppe Limongelli, 

• Pages: 70-76
• First Published: 15 September 2023

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A familial deletion of 10p12.1 associated with thrombocytopenia

Sujal Manohar,  Yoel Gofin,  Haley Streff,  Liesbeth Vossaert,  Pamela Camacho,  Chaya N. Murali, 

• Pages: 77-81
• First Published: 25 September 2023

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Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother

Maria Letizia Minniti,  Silvia Kalantari,  Ludovica Pasca,  Samantha Bruno,  Sebastiano Arceri,  Elisa Novello,  Elisa Giorgio,  Vittoria Rizzo,  Renato Borgatti,  Enza Maria Valente,  Antonio Pisani,  Simona Orcesi,  Fabio Sirchia, 

• Pages: 82-87
• First Published: 26 September 2023

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CASE REPORTS IN DIVERSE POPULATIONS

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Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

Maria Moutafi,  Nikolaos Gkiourtzis,  Athina Ververi,  Maria Kavga,  Anthi Morichovitou,  Kyriaki Papadopoulou-Legbelou,  Maria Fotoulaki,  Paraskevi Panagopoulou, 

• Pages: 88-93
• First Published: 26 August 2023

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A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant

Yukiko Kuroda,  Yoko Saito,  Yumi Enomoto,  Takuya Naruto,  Kenji Kurosawa, 

• Pages: 94-99
• First Published: 30 August 2023

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Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant

S. Deepak Amalnath,  Jothivanan,  Junko Oshima,  Jillian G. Buchan,  Sarah Paolucci, 

• Pages: 100-102
• First Published: 14 September 2023

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GENETIC SYNDROMES IN ADULTS

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Pseudo-eye-of-the-tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

Vasco Sousa Abreu,  José Sá Silva,  Liliana Igreja,  Maria João Malaquias,  Catarina Mendes Pinto, 

• Pages: 103-106
• First Published: 25 September 2023

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RESEARCH LETTERS

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Characteristics of hearing impairment in patients with trisomy 18

Shoko Tamaki,  Sota Iwatani,  Sayaka Katsunuma,  Masahide Otsu,  Seiji Yoshimoto, 

• Pages: 107-110
• First Published: 26 July 2023

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Moebius syndrome and gastroschisis—The second case of a rare association

Knut Brockmann,  Silke Kaulfuß, 

• Pages: 111-114
• First Published: 25 September 2023

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CORRESPONDENCES

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ZFHX4 truncating variant and orofacial clefting

Ugo Sorrentino,  Marny Fedrigo,  Anna Paola Calò,  Martina Perin,  Paola Veronese,  Leonardo Salviati, 

• Pages: 115-116
• First Published: 11 July 2023

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Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease

Josef Finsterer, 

• Pages: 117-118
• First Published: 20 September 2023

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Response to “Letter to the editor” regarding “Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease”

Heng Wang,  Gechong Ruan,  Shan Yang,  Hui Li,  Zixi Sun,  Bowen Tian,  Pengguang Yan,  Yue Li,  Hong Yang,  Yong Zhong,  Jiaming Qian, 

• Pages: 119-120
• First Published: 20 September 2023

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