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1.
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
J Hum Genet
; 69(6): 235-244, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38424183
2.
Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family.
J Dermatol
; 45(9): e260-e261, 2018 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-29574987
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