Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectua...

Descripción completa

Detalles Bibliográficos
Autores principales: Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230601/
https://www.ncbi.nlm.nih.gov/pubmed/30455931
http://dx.doi.org/10.1002/ccr3.1818
_version_ 1783370107942076416
author Warren, Hannah E.
Louie, Raymond J.
Friez, Michael J.
Frías, Jaime L.
Leroy, Jules G.
Spranger, Jürgen W.
Skinner, Steven A.
Champaigne, Neena L.
author_facet Warren, Hannah E.
Louie, Raymond J.
Friez, Michael J.
Frías, Jaime L.
Leroy, Jules G.
Spranger, Jürgen W.
Skinner, Steven A.
Champaigne, Neena L.
author_sort Warren, Hannah E.
collection PubMed
description Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectual disability as seen in our patient is not typical.
format Online
Article
Text
id pubmed-6230601
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-62306012018-11-19 Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations Warren, Hannah E. Louie, Raymond J. Friez, Michael J. Frías, Jaime L. Leroy, Jules G. Spranger, Jürgen W. Skinner, Steven A. Champaigne, Neena L. Clin Case Rep Case Reports Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectual disability as seen in our patient is not typical. John Wiley and Sons Inc. 2018-10-15 /pmc/articles/PMC6230601/ /pubmed/30455931 http://dx.doi.org/10.1002/ccr3.1818 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the 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
Warren, Hannah E.
Louie, Raymond J.
Friez, Michael J.
Frías, Jaime L.
Leroy, Jules G.
Spranger, Jürgen W.
Skinner, Steven A.
Champaigne, Neena L.
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
title Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
title_full Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
title_fullStr Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
title_full_unstemmed Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
title_short Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
title_sort two unrelated patients with autosomal dominant omodysplasia and frizzled2 mutations
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230601/
https://www.ncbi.nlm.nih.gov/pubmed/30455931
http://dx.doi.org/10.1002/ccr3.1818
work_keys_str_mv AT warrenhannahe twounrelatedpatientswithautosomaldominantomodysplasiaandfrizzled2mutations
AT louieraymondj twounrelatedpatientswithautosomaldominantomodysplasiaandfrizzled2mutations
AT friezmichaelj twounrelatedpatientswithautosomaldominantomodysplasiaandfrizzled2mutations
AT friasjaimel twounrelatedpatientswithautosomaldominantomodysplasiaandfrizzled2mutations
AT leroyjulesg twounrelatedpatientswithautosomaldominantomodysplasiaandfrizzled2mutations
AT sprangerjurgenw twounrelatedpatientswithautosomaldominantomodysplasiaandfrizzled2mutations
AT skinnerstevena twounrelatedpatientswithautosomaldominantomodysplasiaandfrizzled2mutations
AT champaigneneenal twounrelatedpatientswithautosomaldominantomodysplasiaandfrizzled2mutations

Ejemplares similares