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:C1832588 (
PSS
)
2,979
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Inherited defects of skull ossification often manifest as symmetric parietal foramina (
PFM
; MIM 168500). We previously identified mutations of MSX2 in non-syndromic
PFM
and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome,
P11pDS
; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and
PFM
. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the
PFM
disease gene in
P11pDS
.
...
PMID:Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 1113 91
