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Novel mutation in the SETD1A gene in a newborn patient associating with congenital airway and heart defeats: A case report

Congenital malformations are commonly associated with genetic disorders in infants and children. PATIENT CONCERNS: A 13-day-old male infant was admitted to our hospital presenting with aggravated dyspnea and characteristic facial and body features. Examinations during hospitalization found congenita...

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Detalles Bibliográficos
Autores principales: Jin, Long, Mo, Wendi, Yan, Yu, Wang, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063285/
https://www.ncbi.nlm.nih.gov/pubmed/37000069
http://dx.doi.org/10.1097/MD.0000000000033449