Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia

BACKGROUND: In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. METHODS: Because Yakuts are considered as a population isolate...

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Detalhes bibliográficos
Main Authors: Maksimova, N, Hara, K, Miyashia, A, Nikolaeva, I, Shiga, A, Nogovicina, A, Sukhomyasova, A, Argunov, V, Shvedova, A, Ikeuchi, T, Nishizawa, M, Kuwano, R, Onodera, O
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2652813/
https://ncbi.nlm.nih.gov/pubmed/17675530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.051979
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