CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge

CYP21A2 genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype–phenotype correlations has facillitated adequate genetic counseling and prenatal management for at‐risk families. Despite extensive efforts to establi...

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Veröffentlicht in:	Annals of the New York Academy of Sciences 2018-03, Vol.1415 (1), p.11-20
Hauptverfasser:	Elmougy, Fatma, Sharaf, Sahar, Hafez, Mona, Khattab, Ahmed, Abou‐Yousef, Hazem, Elsharkawy, Marwa, Baz, Heba, Ekladious, Sherif, Sherif, Balsam, Musa, Noha, Elshiwy, Yasmin, Afif, Alaa, Abdullatif, Mona, Thabet, Ghada, Rady, Normeen, Ibrahim, Amany, Soliman, Hend
Format:	Artikel
Sprache:	eng
Schlagworte:	adrenal Adrenal glands Children CYP21A2 Diagnosis Diagnostic systems Discordance Genetic counseling Genetic screening genotype Genotyping Hyperplasia Mutation phenotype Phenotypes Risk management
Online-Zugang:	Volltext
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