Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

BACKGROUND: Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co‐occurrence of two or more diseases. METHODS: We report here on a consanguineous Libya...

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Detalles Bibliográficos
Autores principales: Ben Haj Ali, Abir, Amouri, Ahlem, Sayeb, Marwa, Makni, Saloua, Hammami, Wajih, Naouali, Chokri, Dallali, Hamza, Romdhane, Lilia, Bashamboo, Anu, McElreavey, Kenneth, Abdelhak, Sonia, Messaoud, Olfa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625148/
https://www.ncbi.nlm.nih.gov/pubmed/31124294
http://dx.doi.org/10.1002/mgg3.694

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