Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I

Journal of Medical Genetics

Volumn 51, Issue 12, 2014, Pages 817-823

  Rattanasopha, Sawitree ^a   Tongkobpetch, Siraprapa ^a,b   Srichomthong, Chalurmpon ^a,b   Kitidumrongsook, Pravit ^a   Suphapeetiporn, Kanya ^a,b   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR DLX5; TRANSCRIPTION FACTOR DLX6; UNCLASSIFIED DRUG; DLX5 PROTEIN, HUMAN; DLX6 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN;

ARTICLE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA EXTRACTION; EXON; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENETIC SCREENING; GENOME IMPRINTING; HUMAN; HUMAN TISSUE; LIMB MALFORMATION; LINKAGE ANALYSIS; OSTEOBLAST; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; SPLIT HAND SPLIT FOOT MALFORMATION TYPE I; TISSUE CULTURE; WESTERN BLOTTING; ANTIBODY SPECIFICITY; CHROMOSOME BREAKAGE; COPY NUMBER VARIATION; FEMALE; FOOT MALFORMATION; GENETIC LINKAGE; GENETICS; HAND MALFORMATION; HETEROZYGOTE; LIMB DEFORMITIES, CONGENITAL; MALE; METABOLISM; PATHOLOGY; PEDIGREE; PHENOTYPE; RADIOGRAPHY;

MUS;

CHROMOSOME BREAKPOINTS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENE EXPRESSION; GENETIC LINKAGE; GENOMIC IMPRINTING; HAND DEFORMITIES, CONGENITAL; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; ORGAN SPECIFICITY; OSTEOBLASTS; PEDIGREE; PHENOTYPE; POINT MUTATION; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84925984709     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102576     Document Type: Article

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