Cargando…
Sifrim–Hitz‐Weiss/CHD4‐related syndrome: A new case report
Autores principales: | Zhang, Beibei, Cheng, Ming, Fan, Lijun, Gong, Chunxiu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262901/ https://www.ncbi.nlm.nih.gov/pubmed/37324594 http://dx.doi.org/10.1002/ped4.12357 |
Ejemplares similares
-
Case report: Diagnosis of a patient with Sifrim–Hitz–Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency
por: Zeka, Naim, et al.
Publicado: (2023) -
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
por: Da Silva, Jorge Diogo, et al.
Publicado: (2022) -
Hitze-Resilienz in der stationären Pflege erreichen
por: Olfermann, Elisabeth, et al.
Publicado: (2023) -
Urbane Hitze- und Luftbelastung - was muss der Kliniker wissen?
por: Witt, Christian, et al.
Publicado: (2023) -
Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia
por: Brajadenta, Gara Samara, et al.
Publicado: (2019)