Camptodactyly in Sotos syndrome

We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. Thi...

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Detalles Bibliográficos
Autores principales: Danda, S., Mathew, M. C., Bain, S. M., Palnok, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168163/
https://www.ncbi.nlm.nih.gov/pubmed/21957350
http://dx.doi.org/10.4103/0971-6866.34711
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author Danda, S.
Mathew, M. C.
Bain, S. M.
Palnok, S.
author_facet Danda, S.
Mathew, M. C.
Bain, S. M.
Palnok, S.
author_sort Danda, S.
collection PubMed
description We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.
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spelling pubmed-31681632011-09-28 Camptodactyly in Sotos syndrome Danda, S. Mathew, M. C. Bain, S. M. Palnok, S. Indian J Hum Genet Case Report We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic. Medknow Publications 2007 /pmc/articles/PMC3168163/ /pubmed/21957350 http://dx.doi.org/10.4103/0971-6866.34711 Text en © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Danda, S.
Mathew, M. C.
Bain, S. M.
Palnok, S.
Camptodactyly in Sotos syndrome
title Camptodactyly in Sotos syndrome
title_full Camptodactyly in Sotos syndrome
title_fullStr Camptodactyly in Sotos syndrome
title_full_unstemmed Camptodactyly in Sotos syndrome
title_short Camptodactyly in Sotos syndrome
title_sort camptodactyly in sotos syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168163/
https://www.ncbi.nlm.nih.gov/pubmed/21957350
http://dx.doi.org/10.4103/0971-6866.34711
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