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Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report

RATIONALE: Clinical and genetic management of patients with rare syndromes is often a difficult, confusing, and slow task. PATIENT CONCERNS: Male child patient with a multisystemic disease showing congenital heart defects, facial dysmorphism, skeletal malformations, and eye anomalies. DIAGNOSIS: The...

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Detalles Bibliográficos
Autores principales:	Bravo-Gil, Nereida, Marcos, Irene, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417628/ https://www.ncbi.nlm.nih.gov/pubmed/30855488 http://dx.doi.org/10.1097/MD.0000000000014782

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