American Journal of Medical Genetics, Part A

Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy

40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting

A Turkish patient with novel

A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)

A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

A novelWDR45mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

A novel mutation inCOL4A1gene: A possible cause of early postnatal cerebrovascular events

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype

A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?

A de novoSOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease