Original paper
Skeletal abnormalities are common features in Aymé‐Gripp syndrome
Abstract
Aymé‐Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF . Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, even though these features have not been...
Paper Details
Title
Skeletal abnormalities are common features in Aymé‐Gripp syndrome
Published Date
Nov 3, 2019
Journal
Volume
97
Issue
2
Pages
362 - 369
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Notes
History