Congenital adrenal hypoplasia
OMIM: # 300200
Gene |
Techniques |
NR0B1 (DAX1) |
Sequence analysis of the entire coding region (exons 1 and 2), including intron/exon junctions: |
Procedure:
Sequence analysis of the NR0B1 gene (DAX1).
Detectie ratio:
~33% % (8/24)
Gene |
Gene product |
Locus |
Inheritance |
OMIM nummer |
Reference Sequence |
NR0B1 |
DAX1 |
Xp21.2 |
X-linked recessive |
300473 |
NM_000475.4; NT_011757.12 |
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