Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome

Microcephaly-capillary malformation syndrome (MIC-CAP) and Mowat-Wilson syndrome (MWS) are both rare hereditary diseases with several overlapping symptoms. We here report a Chinese patient simultaneously affected by MIC-CAP and MWS, presenting with moderate anaemia because of repeated, unilateral re...

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Detalles Bibliográficos
Autores principales: Wang, Hui, Wang, Zhan, Ji, Taoyun, Tai, Jun, Jiang, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696234/
http://dx.doi.org/10.1016/j.heliyon.2023.e22989

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696234/
http://dx.doi.org/10.1016/j.heliyon.2023.e22989

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