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Article

Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.

American journal of medical genetics. Part A - 1 Jul 2018

Amudhavalli Shivarajan M, Hanson Randi, Angle Brad, Bontempo Kelly, Gripp Karen W

Abstract excerpt

Aymé-Gripp syndrome (AGS) is an autosomal dominant multisystem disorder caused by specific heterozygous variants in MAF. The resulting aberrant protein shows impaired GSK-mediated MAF phosphorylation. AGS is characterized by congenital cataracts, sensorineural hearing loss, short stature, intellectual disability, and distinctive facial features with brachycephaly. Cardiac and joint phenotypes are present in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30160832
DOI: 10.1002/ajmg.a.38832

Genes

MAF

Provenance

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