Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation

Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation

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 retardation. Five cases have been reported. We report on a...

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Main Authors: Pranoot Tanpaiboon, Rekwan Sittiwangkul, Prapai Dejkhamron, Metawee Srikummool, Warissara Sripathomsawat, Piranit Kantaputra
Format: Journal
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/48861
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-488612018-08-16T02:14:28Z Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation Pranoot Tanpaiboon Rekwan Sittiwangkul Prapai Dejkhamron Metawee Srikummool Warissara Sripathomsawat Piranit Kantaputra Biochemistry, Genetics and Molecular Biology Medicine 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 retardation. Five cases have been reported. We report on a new patient with ACFS syndrome. In addition to the characteristic features of ACFS, the reported patient also has mild scoliosis, hemivertebrae and subclinical hyperthyroidism. These additional features may expand the phenotypic spectrum of the syndrome. © 2009 Wiley-Liss, Inc. 2018-08-16T02:05:57Z 2018-08-16T02:05:57Z 2009-08-01 Journal 15524833 15524825 2-s2.0-68049113481 10.1002/ajmg.a.32737 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=68049113481&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/48861
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Pranoot Tanpaiboon
Rekwan Sittiwangkul
Prapai Dejkhamron
Metawee Srikummool
Warissara Sripathomsawat
Piranit Kantaputra
Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
description 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 retardation. Five cases have been reported. We report on a new patient with ACFS syndrome. In addition to the characteristic features of ACFS, the reported patient also has mild scoliosis, hemivertebrae and subclinical hyperthyroidism. These additional features may expand the phenotypic spectrum of the syndrome. © 2009 Wiley-Liss, Inc.
format Journal
author Pranoot Tanpaiboon
Rekwan Sittiwangkul
Prapai Dejkhamron
Metawee Srikummool
Warissara Sripathomsawat
Piranit Kantaputra
author_facet Pranoot Tanpaiboon
Rekwan Sittiwangkul
Prapai Dejkhamron
Metawee Srikummool
Warissara Sripathomsawat
Piranit Kantaputra
author_sort Pranoot Tanpaiboon
title Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_short Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_full Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_fullStr Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_full_unstemmed Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_sort expanding the phenotypic spectrum of acro-cardio-facial syndrome (acfs): exclusion of p63 mutation
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=68049113481&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/48861
_version_ 1681423306287218688

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