Barber‐say syndrome: a confirmed case of TWIST2 gene mutation

Barber‐Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along w...

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Detalles Bibliográficos
Autores principales: Yohannan, Mulakkan David, Hilgeman, Jennifer, Allsbrook, Katlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494409/
https://www.ncbi.nlm.nih.gov/pubmed/28680619
http://dx.doi.org/10.1002/ccr3.1014
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author Yohannan, Mulakkan David
Hilgeman, Jennifer
Allsbrook, Katlin
author_facet Yohannan, Mulakkan David
Hilgeman, Jennifer
Allsbrook, Katlin
author_sort Yohannan, Mulakkan David
collection PubMed
description Barber‐Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.
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spelling pubmed-54944092017-07-05 Barber‐say syndrome: a confirmed case of TWIST2 gene mutation Yohannan, Mulakkan David Hilgeman, Jennifer Allsbrook, Katlin Clin Case Rep Case Reports Barber‐Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations. John Wiley and Sons Inc. 2017-06-02 /pmc/articles/PMC5494409/ /pubmed/28680619 http://dx.doi.org/10.1002/ccr3.1014 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Yohannan, Mulakkan David
Hilgeman, Jennifer
Allsbrook, Katlin
Barber‐say syndrome: a confirmed case of TWIST2 gene mutation
title Barber‐say syndrome: a confirmed case of TWIST2 gene mutation
title_full Barber‐say syndrome: a confirmed case of TWIST2 gene mutation
title_fullStr Barber‐say syndrome: a confirmed case of TWIST2 gene mutation
title_full_unstemmed Barber‐say syndrome: a confirmed case of TWIST2 gene mutation
title_short Barber‐say syndrome: a confirmed case of TWIST2 gene mutation
title_sort barber‐say syndrome: a confirmed case of twist2 gene mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494409/
https://www.ncbi.nlm.nih.gov/pubmed/28680619
http://dx.doi.org/10.1002/ccr3.1014
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AT hilgemanjennifer barbersaysyndromeaconfirmedcaseoftwist2genemutation
AT allsbrookkatlin barbersaysyndromeaconfirmedcaseoftwist2genemutation

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