Gene/Protein
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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0403608 (
ureter
)
9,655
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, micrognathia, high-arched palate, cleft palate, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and
ureter
. An EEG showed spike waves in the right temporal area. The patient appeared to have normal internal and external genitalia of the female type. Both ovaries were dysplastic. The karyotype was 46,XY. All of 26 loci on the Y chromosome were positive including SRY, a candidate gene for
TDF
.
...
PMID:Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. 139 79
