Primrose syndrome: Characterization of the phenotype in 42 patients

Primrose syndrome: Characterization of the phenotype in 42 patients

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo het...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam
Fformat: Artigo
Iaith:Saesneg
Cyhoeddwyd: 2020
Mynediad Ar-lein:https://doi.org/10.1111/cge.13749
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.13749
Tagiau: Ychwanegu Tag
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Rhyngrwyd

https://doi.org/10.1111/cge.13749
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.13749

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