Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report

RATIONALE: Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. The distinctive features of FMD include skeletal dysplasia, facial dysmorphism, extremities anomalies, deafness, cleft palate and eye anterior segment anomalies, yet none of the complication...

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Detalles Bibliográficos
Autores principales: Xie, Heng, Xue, Li, Hua, Wei, Jia, Bangsheng, Zhang, Liang, Li, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076188/
https://www.ncbi.nlm.nih.gov/pubmed/29995760
http://dx.doi.org/10.1097/MD.0000000000011283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076188/
https://www.ncbi.nlm.nih.gov/pubmed/29995760
http://dx.doi.org/10.1097/MD.0000000000011283

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