Detalles de la búsqueda
1.
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Clin Genet
; 103(2): 236-241, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36250766
2.
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Neuropediatrics
; 54(1): 31-36, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36126956
3.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Pediatr Neurol
; 155: 8-17, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38569228
Resultados
1 -
3
de 3
1
Próxima >
>>