TY  - JOUR
AU  - Bravo-Gil, Nereida
AU  - Marcos, Irene
AU  - González-Meneses, Antonio
AU  - Antiñolo, Guillermo
AU  - Borrego, Salud
PY  - 2019
DO  - 10.1097/MD.0000000000014782
UR  - http://hdl.handle.net/10668/13685
T2  - Medicine
AB  - Clinical and genetic management of patients with rare syndromes is often a difficult, confusing, and slow task. Male child patient with a multisystemic disease showing congenital heart defects, facial dysmorphism, skeletal malformations, and eye...
LA  - en
KW  - Abnormalities, Multiple
KW  - Diagnosis, Differential
KW  - Germ-Line Mutation
KW  - Humans
KW  - Infant
KW  - Male
KW  - Phenotype
KW  - Proto-Oncogene Proteins c-abl
KW  - Syndrome
TI  - Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.
TY  - research article
VL  - 98
ER  -