Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome

Journal of Human Genetics

Volumn 56, Issue 5, 2011, Pages 348-351

  Zhang, Xufeng ^a,b   Chen, Yougen ^a,b   Zhao, Shentiang ^a   Markljung, Ellen ^b   Nordenskjöld, Agneta ^b,c  

^a SHANDONG UNIVERSITY   (China)

^b KAROLINSKA INSTITUTE   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

hypospadias; MID1; mutation; Opitz syndrome; single nucleotide polymorphism

Indexed keywords

MID1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERTELORISM; HYPOSPADIAS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OPITZ SYNDROME; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; ESOPHAGUS; EXONS; FEMALE; HUMANS; HYPERTELORISM; HYPOSPADIAS; MALE; MICROTUBULE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SYNDROME; TRANSCRIPTION FACTORS;

EID: 79957582577     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.17     Document Type: Article

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