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Article

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Clinical genetics - 1 Feb 2019

Lonardo F, Lonardo M S, Acquaviva F, Della Monica M, Scarano F, Scarano G

Abstract excerpt

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual disability, hypotonia, genital abnormalities, and patellar hypoplasia/agenesis. In addition,...

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PMID: 28857140
DOI: 10.1111/cge.13127

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Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?PMID 28857140Read ↗

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