Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Article
in En
| MEDLINE
| ID: mdl-25434003
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Choanal Atresia
/
Promoter Regions, Genetic
/
Spliceosomes
/
Ribonucleoprotein, U5 Small Nuclear
/
Gene Deletion
/
Deafness
/
Heart Defects, Congenital
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Hum Genet
Year:
2014
Document type:
Article
Country of publication: