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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Autori principali: Stuppia, L, Calabrese, G, Borrelli, P, Gatta, V, Morizio, E, Mingarelli, R, Di, G, Crino, A, Giannotti, A, Rappold, G, Palka, G
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 1999
Soggetti:
Short Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734422/
https://ncbi.nlm.nih.gov/pubmed/10507731
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