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First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations

1 Oct 2018

Abstract excerpt

Coffin-Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg-1 associated factors (BAF) complex. Classically, individuals with CSS have been described with hypo- or aplasia of the fifth digit nails or phalanges (hence the term "fifth digit syndrome"). Other physical features seen include growth restriction, coarse facial features, hypertrichosis...

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PMID: 30276971
DOI: 10.1002/ajmg.a.40471

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