Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.

TitleNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.
Publication TypeJournal Article
Year of Publication2019
AuthorsMidro, AT, Tommerup, N, Borys, J, Panasiuk, B, Kosztyła-Hojna, B, Zalewska, R, Konstantynowicz, J, Łebkowska, U, Cooper, L, Scherer, SE, Mehrjouy, MM, Liu, Q, Skowroński, R, Stankiewicz, P
JournalClin Genet
Date Published2019 Jan 11
ISSN1399-0004
DOI10.1111/cge.13490
Alternate JournalClin. Genet.
PubMed ID30633344