Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy

BACKGROUND: Dyssegmental dysplasia Silverman‐Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four were prenatally detected. METHODS: We report on a...

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Detalles Bibliográficos
Autores principales: Basalom, Shuaa, Trakadis, Yannis, Shear, Roberta, Azouz, Michel E., De Bie, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014473/
https://www.ncbi.nlm.nih.gov/pubmed/29526034
http://dx.doi.org/10.1002/mgg3.379

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014473/
https://www.ncbi.nlm.nih.gov/pubmed/29526034
http://dx.doi.org/10.1002/mgg3.379

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