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About 26 results

ALLMedicine™ Adult Syndrome Center

Research & Reviews  13 results

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598809
Medicine Otsuki Y, Ueda K et. al.

Oct 31st, 2020 - Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H m...

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformatio...
https://doi.org/10.1002/jgm.3122
The Journal of Gene Medicine REFERENCES; Jin JY, Zeng L et. al.

Aug 19th, 2019 - 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 syn...

ADULT syndrome
https://rarediseases.info.nih.gov/diseases/384/adult-syndrome

Aug 31st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 978 Definition A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia,...

Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dyspl...
https://doi.org/10.1111/pde.12938
Pediatric Dermatology; Whittington A, Stein S et. al.

Jul 29th, 2016 - Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many...

Shaken adult syndrome: report of 2 cases.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049539
JAMA Ophthalmology; Azari AA, Kanavi MR et. al.

Sep 30th, 2013 - To establish that the intracranial and ophthalmologic findings present in victims of abusive head trauma can also be seen in shaken adults. We report 2 cases of shaken adults with intracranial and ophthalmologic findings that resulted from repetit...

see more →

Clinicaltrials.gov  13 results

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598809
Medicine Otsuki Y, Ueda K et. al.

Oct 31st, 2020 - Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H m...

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformatio...
https://doi.org/10.1002/jgm.3122
The Journal of Gene Medicine REFERENCES; Jin JY, Zeng L et. al.

Aug 19th, 2019 - 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 syn...

ADULT syndrome
https://rarediseases.info.nih.gov/diseases/384/adult-syndrome

Aug 31st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 978 Definition A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia,...

Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dyspl...
https://doi.org/10.1111/pde.12938
Pediatric Dermatology; Whittington A, Stein S et. al.

Jul 29th, 2016 - Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many...

Shaken adult syndrome: report of 2 cases.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049539
JAMA Ophthalmology; Azari AA, Kanavi MR et. al.

Sep 30th, 2013 - To establish that the intracranial and ophthalmologic findings present in victims of abusive head trauma can also be seen in shaken adults. We report 2 cases of shaken adults with intracranial and ophthalmologic findings that resulted from repetit...

see more →