Genetics of 21-hydroxylase deficiency: Clinical presentation should guide the investigation.
Am J Med Genet A
; 194(4): e63513, 2024 04.
Article
em En
| MEDLINE
| ID: mdl-38116711
ABSTRACT
A young couple applied for preconception counseling because of a case of congenital adrenal hyperplasia in the family. They were concerned about their risk of giving birth to a child with classic congenital adrenal hyperplasia. The case presented here demonstrates the complexity of the genetics of 21-hydroxylase deficiency and the way the clinical presentation should guide the genetic inquiry.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Hiperplasia Suprarrenal Congênita
Limite:
Child
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Israel