Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report

Van Maldergem syndrome (VMLDS) is a recessive disease which affects multiple organs including the face, ear, and limb extremities. It can be caused by pathogenic variants in either the gene DCHS1 or FAT4. Diagnosis of VMLDS is complicated, especially regarding its similarity of symptoms to Hennekam...

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Detalles Bibliográficos
Autores principales: Rahmani, Nasim, Ahmadvand, Mohammad, Khakpour, Golnaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Clinical Vignettes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10392142/
https://www.ncbi.nlm.nih.gov/pubmed/37551355
http://dx.doi.org/10.2478/abm-2022-0036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10392142/
https://www.ncbi.nlm.nih.gov/pubmed/37551355
http://dx.doi.org/10.2478/abm-2022-0036

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