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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| Format: | Online |
| Language: | English |
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Medknow Publications
2007
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168163/ |
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pubmed-3168163 |
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oai_dc |
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pubmed-31681632011-09-28 Camptodactyly in Sotos syndrome Danda, S. Mathew, M. C. Bain, S. M. Palnok, S. 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. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Danda, S. Mathew, M. C. Bain, S. M. Palnok, S. |
| spellingShingle |
Danda, S. Mathew, M. C. Bain, S. M. Palnok, S. Camptodactyly in Sotos syndrome |
| author_facet |
Danda, S. Mathew, M. C. Bain, S. M. Palnok, S. |
| author_sort |
Danda, S. |
| title |
Camptodactyly in Sotos syndrome |
| title_short |
Camptodactyly in Sotos syndrome |
| title_full |
Camptodactyly in Sotos syndrome |
| title_fullStr |
Camptodactyly in Sotos syndrome |
| title_full_unstemmed |
Camptodactyly in Sotos syndrome |
| title_sort |
camptodactyly in sotos syndrome |
| 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. |
| publisher |
Medknow Publications |
| publishDate |
2007 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168163/ |
| _version_ |
1611474097020076032 |