MED12‐related Hardikar syndrome: Two additional cases and novel phenotypic features

Hardikar syndrome (HS) is a MED12‐related ultra‐rare multiple congenital malformation syndrome known to affect the gastrointestinal, cardiac, and genitourinary systems among other features including cleft lip/palate and pigmentary retinopathy. Only 10 patients affected with HS have been previously d...

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Detalles Bibliográficos
Autores principales: Pillai, Nishitha R., Miller, Dana, Bronken, Grace, Salunke, Amrita Kahlon, Aggarwal, Anjali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324214/
https://www.ncbi.nlm.nih.gov/pubmed/35385210
http://dx.doi.org/10.1002/ajmg.a.62756

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324214/
https://www.ncbi.nlm.nih.gov/pubmed/35385210
http://dx.doi.org/10.1002/ajmg.a.62756

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