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

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

Abstract 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 consanguineou...

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Bibliographic Details
Main Authors: Abir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, Saloua Makni, Wajih Hammami, Chokri Naouali, Hamza Dallali, Lilia Romdhane, Anu Bashamboo, Kenneth McElreavey, Sonia Abdelhak, Olfa Messaoud
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autozygosity mapping
Comorbidity
genetic counseling
incidental findings
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.694

Internet

https://doi.org/10.1002/mgg3.694

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