Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0403608 (
ureter
)
9,655
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The classical features of Kallmann syndrome with
anosmia
and hypogonadotropic hypogonadism were observed in two sisters aged 13 and 19. They had additional malformations including
anosmia
, bilateral vesico-ureteral reflux and unilateral hearing loss. One of the girls had unilateral coloboma of the optic nerve. The father had unilateral hearing loss and duplication of the left
ureter
; he died of an unrecognized coarctation of the aorta. He had no clinical signs of hypogonadism or
anosmia
. It is suggested that the malformations observed in these patients may be due to a dominant inherited defect of embryonic cell migration, resulting in different phenotypic expressions within the same family, including the Kallmann syndrome.
...
PMID:Kallmann syndrome in two sisters with other developmental anomalies also affecting their father. 846 98
