Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 993-995, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776760
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a pedigree affected with tricho-rhino-phalangeal syndrome.@*METHODS@#Next-generation sequencing (NGS) using a gene panel for hereditary osteopathies was carried out for the proband. Suspected mutation was validated in the proband and her parents by Sanger sequencing.@*RESULTS@#A heterozygous frameshift variation c.1995dupA (p.Gly666Argfs*20) of the TRPS1 gene was detected in the proband but not in her parents.@*CONCLUSION@#The novel c.1995dupA (p.Gly666Argfs*20) mutation of the TRPS1 gene probably underlies the disease in the proband.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Anomalías Congénitas
/
Factores de Transcripción
/
Síndrome de Langer-Giedion
/
Nariz
/
Mutación del Sistema de Lectura
/
Proteínas de Unión al ADN
/
Dedos
/
Genética
/
Enfermedades del Cabello
Límite:
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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