Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.
Horm Res Paediatr
; 91(1): 9-16, 2019.
Article
in En
| MEDLINE
| ID: mdl-30947225
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Family
/
Kallmann Syndrome
/
Receptors, LHRH
/
Codon, Nonsense
/
Exome
/
Infertility, Female
/
Infertility, Male
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Horm Res Paediatr
Journal subject:
ENDOCRINOLOGIA
/
PEDIATRIA
Year:
2019
Type:
Article