Limb-mammary syndrome

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects nails
oral cavity
mammary glands
limbs
gptkbp:alsoKnownAs gptkb:LMS
gptkbp:characterizedBy cleft palate
limb malformations
mammary gland hypoplasia
nail abnormalities
gptkbp:firstDescribed 1999
D. C. C. Celli
https://www.w3.org/2000/01/rdf-schema#label Limb-mammary syndrome
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:TP63_gene
gptkbp:OMIM 603543
gptkbp:bfsParent gptkb:p63
gptkbp:bfsLayer 6