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

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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Maksimova, Nadezda, Hara, Kenju, Nikolaeva, Irina, Chun-Feng, Tan, Usui, Tomoaki, Takagi, Mineo, Nishihira, Yasushi, Miyashita, Akinori, Fujiwara, Hiroshi, Oyama, Tokuhide, Nogovicina, Anna, Sukhomyasova, Aitalina, Potapova, Svetlana, Kuwano, Ryozo, Takahashi, Hitoshi, Nishizawa, Masatoyo, Onodera, Osamu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2010
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2921285/
https://ncbi.nlm.nih.gov/pubmed/20577004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.074815
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