Title: Two novel deletions in hypotonia-cystinuria syndrome
Authors: RĂ©gal, Luc ×
Aydin, Halil Ibrahim
Dieltjens, Anne-Marie
Van Esch, Hilde
Francois, Inge
Okur, Ilyas
Zeybek, Cengiz
Meulemans, Sandra
Van Mol, Christine
Van Bruwaene, Lore
Then, Siao-Hann
Jaeken, Jaak
Creemers, John #
Issue Date: Nov-2012
Publisher: Academic Press
Series Title: Molecular Genetics and Metabolism vol:107 issue:3 pages:614-616
Abstract: Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in childhood, growth hormone deficiency, and variable cognitive problems. Only 14 families with 6 different deletions have been reported. Patients are often initially misdiagnosed, while correct diagnosis enables therapeutic interventions. We report two novel deletions, further characterizing the clinical and molecular genetics spectrum of HCS.
ISSN: 1096-7192
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Biochemical Neuroendocrinology
× corresponding author
# (joint) last author

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