Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 669-672, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-826509
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a child with lymphangiectasia and lymphedema.@*METHODS@#DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents.@*CONCLUSION@#The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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