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COVER IMAGE

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Cover Image, Volume 196, Number 4, December 2024

  • First Published: 13 December 2024
Cover Image, Volume 196, Number 4, December 2024

Image credit: Science Photo Library - PASIEKA/Getty Images

ISSUE INFORMATION

Free Access

Table of Contents, Volume 196, Number 4, December 2024

  • First Published: 13 December 2024

RESEARCH ARTICLE

Open Access

Domain-specific phenotypes in LINS1-related disorder—A Chinese family with the Q92X variant and literature review

Xu-Ying Li,  Zhanjun Wang,  Yanping Yang,  Ruichai Lin,  Chaodong Wang, 
  • First Published: 02 April 2024
Open Access

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene

Henri Margot,  Adrien Pizano,  Anouck Amestoy,  Didier Lacombe,  Camille Berges,  Claire Beneteau,  A. Micheil Innes, 
  • First Published: 09 April 2024

REVIEW ARTICLE

Full Access

Simpson–Golabi–Behmel syndrome

Alessandro Vaisfeld,  Giovanni Neri, 
  • First Published: 20 May 2024

RESEARCH ARTICLE

Open Access

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype

Camilla Sarli,  Liselot van der Laan,  Jack Reilly,  Slavica Trajkova,  Diana Carli,  Alfredo Brusco,  Michael A. Levy,  Raissa Relator,  Jennifer Kerkhof,  Haley McConkey,  Matthew L. Tedder,  Cindy Skinner,  Mariëlle Alders,  Peter Henneman,  Raoul C. M. Hennekam,  Claudia Ciaccio,  Stefano D'Arrigo,  Antonio Vitobello,  Laurence Faivre,  Sacha Weber,  Aline Vincent-Devulder,  Laurence Perrin,  Alexia Bourgois,  Toshiyuki Yamamoto,  Kay Metcalfe,  Marcella Zollino,  Usha Kini,  Daniela Oliveira,  Sergio B. Sousa,  Denise Williams,  Gerarda Cappuccio,  Bekim Sadikovic,  Nicola Brunetti-Pierri, 
  • First Published: 17 June 2024
Full Access

Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016–2019

Eric Rubenstein,  Salina Tewolde,  Brian G. Skotko,  Amy Michals,  Juan Fortea, 
  • First Published: 25 June 2024

CASE REPORT

Full Access

Practicalities (and real-life experiences) of dementia in adults with Down syndrome

Ayesha Harisinghani,  Clorinda Cottrell,  Karen Donelan,  Alice D. Lam,  Margaret Pulsifer,  Stephanie L. Santoro, 
  • First Published: 05 July 2024

RESEARCH ARTICLE

Open Access

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol

Simone Gasparini,  Simona Balestrini,  Luigi Francesco Saccaro,  Giacomo Bacci,  Giorgia Panichella,  Martino Montomoli,  Gaetano Cantalupo,  Stefania Bigoni,  Giorgia Mancano,  Simona Pellacani,  Vincenzo Leuzzi,  Nila Volpi,  Francesco Mari,  Federico Melani,  Mara Cavallin,  Tiziana Pisano,  Giulio Porcedda,  Augusto Vaglio,  Davide Mei,  Carmen Barba,  Elena Parrini,  Renzo Guerrini, 
  • First Published: 17 July 2024
Open Access

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

Jenny P. Garzon,  Andrea Patete,  Lindsey Aschbacher-Smith,  Dima Qu'd,  Geraldine Kelly-Mancuso,  Carolyn R. Raski,  Allison Goetsch Weisman,  Madison Hankins,  Michael Sawin,  Katherine Kim,  Andy Drackley,  Janice Zeid,  K. Nicole Weaver,  Robert J. Hopkin,  Howard M. Saal,  Joel Charrow,  Elizabeth Schorry,  Robert Listernick,  Brittany N. Simpson,  Carlos E. Prada, 
  • First Published: 18 July 2024

CASE REPORT

Open Access

Catatonia responsive to corticosteroids in a patient with an SCN2A variant

Kimberly Senko,  Kelsey L. Saddoris,  Ella Baus,  Katherine Soe,  Samuel E. Vaughn, 
  • First Published: 26 July 2024

RESEARCH ARTICLE

Full Access

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders

Anisa Bibi,  Weizhen Ji,  Lauren Jeffries,  Cynthia Zerillo,  Monica Konstantino,  Emily K. Mis,  Filza Khursheed,  Mustafa K. Khokha,  Saquib A. Lakhani,  Sajid Malik, 
  • First Published: 17 August 2024

COMMENTARY

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The Myhre Syndrome Foundation as a global modern support group: The business of rare

Kate Wears,  Angela E. Lin,  Lois J. Starr, 
  • First Published: 01 October 2024