Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Cold Spring Harb Mol Case Stud
; 3(1): a001388, 2017 Jan.
Article
en En
| MEDLINE
| ID: mdl-28050602
central hypotonia; congenital diaphragmatic hernia; fourth toe clinodactyly; hammertoe; inguinal hernia; joint laxity; long philtrum; malar flattening; pes planus; protruding ear; smooth philtrum; sparse anterior scalp hair; sparse lateral eyebrow; superior pectus carinatum; thin nail; thin upper lip vermilion; thoracic scoliosis; umbilical hernia
Texto completo:
1
Banco de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2017
Tipo del documento:
Article
País de afiliación:
Estados Unidos