American Journal of Medical Genetics. Part A

(ISSN: 1552-4825, 1552-4833)

Table of Contents

2019 - 179 (2)

  • POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS. 
  • De Novo Mutations have Variable Recurrences Within Families. 
  • Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder. 
  • Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. 
  • High-level language competencies and Theory of Mind in a group of children with Klinefelter syndrome. 
  • Cornelia de Lange syndrome in diverse populations. 
  • Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study. 
  • Clinical identification of feeding and swallowing disorders in 0-6 month old infants with Down syndrome. 
  • Parents' perceptions of functional abilities in people with Down syndrome. 
  • GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion. 
  • Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. 
  • Many newborns in level IV NICUs are eligible for rapid DNA sequencing. 
  • Contributing factors of mortality in Prader-Willi syndrome. 
  • Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways. 
  • Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females. 
  • Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. 
  • A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. 
  • SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa. 
  • A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder. 
  • Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment. 
  • A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families. 
  • Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. 
  • Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features. 
  • A homozygous MITF mutation leads to familial Waardenburg syndrome type 4. 
  • The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. 
  • COMMENTARY-The Saul-Wilson syndrome from its early days until now. 

Journal Information