|
LIMB-MAMMARY SYNDROME
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome), limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS) and split-hand/foot malformation 4 (SHFM4), and are all a result of heterozygous mutations of TP63.
|
31420900 |
2019 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
The third hallmark of the EEC syndrome is orofacial clefting, in particular lip and palate. p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome).
|
23407076 |
2013 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
Biomarker
|
disease |
BEFREE |
To test whether TP63 is the disease-causative gene for these phenotypes in Chinese, we recruited two Chinese Ectrodactyly-Ectodermal-dysplasia-Cleft lip/palate syndrome (EEC) cases and a Limb-Mammary-Syndrome (LMS) patient to carry out TP63 gene sequencing.
|
20410354 |
2010 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias.
|
17164413 |
2007 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb-mammary syndrome (LMS).
|
17431922 |
2007 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
GermlineCausalMutation
|
disease |
ORPHANET |
We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
|
11462173 |
2001 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
|
11462173 |
2001 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
Biomarker
|
disease |
CTD_human |
We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
|
11462173 |
2001 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
|
11462173 |
2001 |
|
LIMB-MAMMARY SYNDROME
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|