A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1642-1647

  Barboza Cerda, María C ^a   Wong, Lee Jun ^b   Martínez de Villarreal, Laura E ^a   Zhang, Victor Wei ^b   Déctor, Miguel A ^a  

^a Medicina UANL   (Mexico)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

CDPX2; Chondrodysplasia punctata 2, X linked dominant; Developmental delay; Digital abnormalities; Emopamil binding protein; Intellectual disability; Sterol biosynthesis; X exome; X linked recessive

Indexed keywords

ALANINE; THREONINE; EBP PROTEIN, HUMAN; STEROID DELTA ISOMERASE;

ARTICLE; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME 11P; EBP GENE; EXOME; FEMALE; GENE; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; HUMAN; INTELLECTUAL IMPAIRMENT; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; PATHOGENICITY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SHORT STATURE; X CHROMOSOME LINKED DISORDER; X LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA 2; DIFFERENTIAL DIAGNOSIS; GENETIC DISEASES, X-LINKED; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MUTATION; PEDIGREE;

CHONDRODYSPLASIA PUNCTATA; DIAGNOSIS, DIFFERENTIAL; EXOME; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; STEROID ISOMERASES;

EID: 84902545531     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36508     Document Type: Article

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