Detalles de la búsqueda
1.
PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.
Am J Med Genet A
; 188(9): 2790-2795, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35698866
2.
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Eur J Med Genet
; 66(4): 104714, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36724812
3.
A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease.
Clin Dysmorphol
; 29(1): 65-68, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31688096
Resultados
1 -
3
de 3
1
Próxima >
>>