Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

Р. Максимова, Н.; Hara, Kenju; Е. Николаева, И.; Chun-Feng, Tan; Usui, Tomoaki; Takagi, Mineo; Nishihira, Yasushi; Miyashita, Akinori; Fujiwara, H.; Oyama, Tokuhide; Nogovicina, Anna; L. Sukhomyasova, A.; Potapova, Svetlana; Kuwano, Ryozo; Takahashi, Hitoshi; Nishizawa, Masatoyo; Onodera, Osamu

doi:10.1136/jmg.2009.074815

Public

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

Published in Journal of Medical Genetics • Jun 24, 2010

Authors:

Н. Р. Максимова

Kenju Hara

И. Е. Николаева

Abstract

BACKGROUND: Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary short stature syn...

Subject

Short stature

Locus (genetics)

Atrophy

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