Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

Gene

Volumn 494, Issue 1, 2012, Pages 105-108

  Lee, Seungok ^a   Chae, Hyojin ^a   Park, In Yang ^a   Kim, Myungshin ^a   Kim, Yonggoo ^a   Shin, Jong Chul ^a   Lee, Juyoung ^a   Son, Jungok ^a  

^a The Catholic University of Korea   (South Korea)

Author keywords

5q22.3 Deletion; Club feet; Craniofacial; Genotype phenotype; PITX1

Indexed keywords

GENOMIC DNA; PITX1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

AMBIGUOUS GENITALIA; ANTERIOR FONTANEL; APGAR SCORE; ARTHROGRYPOSIS; ARTICLE; AUTOSOME; BIRTH WEIGHT; BODY HEIGHT; BRACHYCEPHALY; BRAIN HYPOXIA; CASE REPORT; CESAREAN SECTION; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DELETION 5Q; CLENCHED HAND; CLUBFOOT; COCCYGEAL BONE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; CYANOSIS; DISEASE SEVERITY; DISSEMINATED INTRAVASCULAR CLOTTING; DYSPLASIA; EYE DISEASE; FAILURE TO THRIVE; FETUS ECHOGRAPHY; FOREHEAD; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HAND DISEASE; HEAD CIRCUMFERENCE; HEART LEFT VENTRICLE HYPERTROPHY; HIGH RESOLUTION MULTICOLOR BANDING; HIRSUTISM; HUMAN; HYPERTELORISM; HYPERTROPHIC CARDIOMYOPATHY; INGUINAL HERNIA; INTENSIVE CARE UNIT; KARYOTYPE; KOREA; LIMB DEFECT; LOW SET EAR; LUNG DYSPLASIA; MALE; MICROGNATHIA; MULTIPLE ORGAN FAILURE; NEWBORN; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRENATAL PERIOD; PRIORITY JOURNAL; PROMINENT EYE; RESPIRATORY DISTRESS; RETROGNATHIA; SOLUTIO PLACENTAE;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 5; CRANIOFACIAL ABNORMALITIES; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; SEQUENCE DELETION;

EID: 84856097068     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.11.063     Document Type: Article

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