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Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

✍ Scribed by Gerards, M.; de Coo, R.; Smeets, H.


Book ID
126153887
Publisher
Oxford University Press
Year
2014
Tongue
English
Weight
86 KB
Volume
137
Category
Article
ISSN
0006-8950

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## Abstract Recently mutations in the gene __ZFHX1B__ (__SIP1__) were shown in patients with β€œsyndromic Hirschsprung disease” with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinc