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

Internet

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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