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

Autor:	Jerzy Konstantynowicz, Barbara Panasiuk, Renata Zalewska, Lance Cooper, Qian Liu, Manna M. Mehrjouy, Rafał Skowroński, Jan Borys, Urszula Łebkowska, Steven E. Scherer, Niels Tommerup, Alina T. Midro, Pawel Stankiewicz, Bożena Kosztyła-Hojna
Rok vydání:	2019
Předmět:	0301 basic medicine business.industry Silver–Russell syndrome Anatomy medicine.disease Distal limb 03 medical and health sciences 030104 developmental biology Neurodevelopmental disorder Genetics medicine business Genetics (clinical) Dysmorphic facies
Zdroj:	Clinical Genetics. 95:534-536
ISSN:	0009-9163
DOI:	10.1111/cge.13490
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::08cf245fec4fa6b0d17499cd4b667de1 https://doi.org/10.1111/cge.13490 Zobrazit plný text záznamu Plný text