American Journal of Medical Genetics Part A: Vol 167, No 6

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American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 167, Issue 6

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American Journal of Medical Genetics Part A: Volume 167A, Number 6, June 2015

Table of Contents

Table of Contents, Volume 167A, Number 6, June 2015

the AJMG SEQUENCE: Decoding News and Trends for the Medical Genetics Community by Deborah Levenson

23andme obtains permission to market bloom syndrome test

Genetic pathways explored for role in cystic fibrosis

In this issue

Conference Reports

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17-19, 2014

Research Articles

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

Genetic causes of intellectual disability in a birth cohort: A population-based study

Frontometaphyseal dysplasia and keloid formation without FLNA mutations

3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients

Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg–Micro syndrome

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

The ACVRL1 c.314—35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations

Elevation of insulin-like growth factor binding protein-2 level in Pallister–Killian syndrome: Implications for the postnatal growth retardation phenotype

A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction

Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair

Clinical Reports

Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy

Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome

Goldberg–Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy

Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: Implications for treatment and surveillance

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome—evidence for phenotypic variability

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features

Methadone use in a male with the FMRI premutation and FXTAS

46,XY disorders of sex development and congenital diaphragmatic hernia: A case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly

Early onset ectopia lentis due to a FBN1 mutation with non-penetrance

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

MED23-associated intellectual disability in a non-consanguineous family

De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review

Patients with isolated oligo/hypodontia caused by RUNX2 duplication

ELP2 is a novel gene implicated in neurodevelopmental disabilities

New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse

Research Letters

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects

4q21 microdeletion in a patient with epilepsy and brain malformations

Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome

Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia

Successful use of acetazolamide for central apnea in a child with Pitt–Hopkins syndrome

Correspondence

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: Additional information

Comment on The extraordinary career of Professor Dr Simon van Creveld

Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al. [2012]

Erratum

Erratum to “The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations”

This article corrects the following:

The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations

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