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Article

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.

Clinical dysmorphology - 1 Apr 2020

Sumathipala Dulika S, Misceo Doriana, Larsen Selma Mujezinovic, Barøy Tuva, Gamage Thilini H, Frengen Eirik, Strømme Petter

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PMID: 31929336
DOI: 10.1097/MCD.0000000000000314

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