Article
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018
Régal Luc, Mårtensson Emma, Maystadt Isabelle, Voermans Nicol, Lederer Damien, Burlina Alberto, Juan Fita María Jesús, Hoogeboom A Jeannette M, Olsson Engman Mia, Hollemans Tess, Schouten Meyke, Meulemans Sandra, Jonson Tord, François Inge, Gil Ortega David, Kamsteeg Erik-Jan, Creemers John W M
Abstract excerpt
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL...
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