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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
Author(s) -
Midro Alina T.,
Tommerup Niels,
Borys Jan,
Panasiuk Barbara,
KosztyłaHojna Bożena,
Zalewska Renata,
Konstantynowicz Jerzy,
Łebkowska Urszula,
Cooper Lance,
Scherer Steven E.,
Mehrjouy Manna M.,
Liu Qian,
Skowroński Rafał,
Stankiewicz Paweł
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13490
Subject(s) - table (database) , medicine , computer science , data mining