Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Warissara Sripathomsawat"'
Publikováno v:
American journal of medical genetics. Part A. (1)
We report on a mother and son who were affected with split hand-split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic nails. Their hair was wiry, brownish, and slow-growing. Scanning electron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac6ca08e1c6e72b28c7422bf5f4a346
https://pubmed.ncbi.nlm.nih.gov/22065540
https://pubmed.ncbi.nlm.nih.gov/22065540
Autor:
Volker Dötsch, Jan Heering, Raoul C.M. Hennekam, Piranit Nik Kantaputra, Warissara Sripathomsawat, Pranoot Tanpaiboon
Publikováno v:
American journal of medical genetics. Part A, 155A(1), 228-232. Wiley-Liss Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d11fc5eac9e0a28b32ff3ea48f180284
https://pure.amc.nl/en/publications/phenotypic-analysis-of-arg227-mutations-of-tp63-with-emphasis-on-dental-phenotype-and-micturition-difficulties-in-eec-syndrome(2d2a8d1a-e218-492e-8944-cf88e0f4c153).html
https://pure.amc.nl/en/publications/phenotypic-analysis-of-arg227-mutations-of-tp63-with-emphasis-on-dental-phenotype-and-micturition-difficulties-in-eec-syndrome(2d2a8d1a-e218-492e-8944-cf88e0f4c153).html
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
Autor:
Jan Heering, Alexandre R. Vieira, Theerapong Khankasikum, Sutti Malaivijitnond, Piranit Nik Kantaputra, Volker Dötsch, Warissara Sripathomsawat
Publikováno v:
American journal of medical genetics. Part A. (6)
Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c631b640c0b4ce1b4aeef5ca66daf8e9
https://pubmed.ncbi.nlm.nih.gov/21567929
https://pubmed.ncbi.nlm.nih.gov/21567929
Publikováno v:
American journal of medical genetics. Part A. (11)
Al-Awadi/Raas-Rothschild/Schinzel phocomelia (AARRS) syndrome, a rare autosomal recessive disorder, comprises malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. Mutations in WNT7A have been reported as cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b27d21810b0c9724920ba8a4a5f7cd5f
https://pubmed.ncbi.nlm.nih.gov/20949531
https://pubmed.ncbi.nlm.nih.gov/20949531
Publikováno v:
American journal of medical genetics. Part A. (5)
WNT10A has been associated with various syndromes with ectodermal dysplasia from severe autosomal recessive SchO?pf-Schulz-Passarge syndrome to odonto-onycho-dermal dysplasia and autosomal dominant hypodontia. We report WNT10A mutations in an America
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69491b21bcd2585f705bbacece1f6372
https://pubmed.ncbi.nlm.nih.gov/21484994
https://pubmed.ncbi.nlm.nih.gov/21484994
Autor:
Metawee Srikummool, Piranit Nik Kantaputra, Warissara Sripathomsawat, Prapai Dejkhamron, Pranoot Tanpaiboon, Rekwan Sittiwangkul
Publikováno v:
American journal of medical genetics. Part A. (8)
Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27b610fa42438296df1fc628627b64bd
https://pubmed.ncbi.nlm.nih.gov/19606477
https://pubmed.ncbi.nlm.nih.gov/19606477