Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male

A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis with SHOX and SRY gene probes was carried out. One copy of both SHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that...

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Autors principals: Stuppia, L, Calabrese, G, Borrelli, P, Gatta, V, Morizio, E, Mingarelli, R, Di, G, Crino, A, Giannotti, A, Rappold, G, Palka, G
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 1999
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734422/
https://ncbi.nlm.nih.gov/pubmed/10507731
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