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:C0700208 (
scoliosis
)
8,574
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A de novo partial 13q monosomy is reported in a severely affected 8-year-old female with the karyotype 46,XX,del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, ptosis, flat nasal bridge, protruding upper incisors, facial asymmetry, short neck, hypoplastic thumbs,
scoliosis
and clubfeet. The deletion was demonstrable by R-banding but was not apparent by GTG banding. The locus for
esterase D
(EC 3.1.1.1) is excluded from the deleted segment 13q32 leads to 13qter.
...
PMID:Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter. 739 15
