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Pigmentary Anomalies in the Multiple Lentigines Syndrome: Is it Distinct from LEOPARD Syndrome?

✍ Scribed by Sheryl L. Arnsmeier; Amy S. Palier


Book ID
115309068
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
746 KB
Volume
13
Category
Article
ISSN
0736-8046

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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