Disease Information for ADULT syndrome (3q27)

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Disease Mechanism & Classification
Class
CLASS/Acronymic term disorder (ex)
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 3q27
Pathophysiology/Gene locus chromosome 3
Pathophysiology/Gene Locus chromosome 3q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary dominance/incomplete penetrance (ex).
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
Definition

undr construction gene locus 3q27;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME or ADULT Syndrome; [A-D-U-L-T Syndrome or ADULTS]; Gene map locus 3 q 27;mutation in the TP63 gene; Family members were affected by a syndrome with variable expression, Features included ectrodactyly, (absent digits/rays/ulna) syndactyly, fingernail and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and loss of permanent teeth; Because of the phenotypic similarity with limb-mammary syndrome (LMS) which had been mapped to chromosome 3q27; studies placed the ADULT locus in the same chromosome region as the LMS locus, suggesting that these 2 conditions are allelic; a missense mutation in the TP63 gene, located at chromosome 3q27, in spontaneous germ cell mutation then the mutation was inherited with incomplete penetrance-----------------[OMIM]-----------------

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External Links Related to ADULT syndrome (3q27)
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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