Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome?

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 12, 2012, Pages 3065-3070

  Phadke, Shubha R ^a   Ranganath, Prajnya ^a   Boggula, Vijay Raju ^a   Gupta, Divya ^a   Phadke, Rajendra V ^a   Sloman, Melissa ^b   Turnpenny, Peter D ^b  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^b ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

Hypospadias; Intellectual disability; New syndrome; Short stature; Spondylocostal dysostosis; Vertebral segmentation defects

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; COMPARATIVE STUDY; COPY NUMBER VARIATION; CYTOGENETICS; DISEASE ASSOCIATION; DLL3 GENE; GENE; GENE DELETION; GENE SEQUENCE; HES7 GENE; HUMAN; HYPOSPADIAS; INDIA; INTELLECTUAL IMPAIRMENT; KARYOTYPE; LFNG GENE; MALE; MESP2 GENE; MICROARRAY ANALYSIS; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SCOLIOSIS; SHORT STATURE; SYNDROME; VERTEBRA MALFORMATION; VERTEBRAL SEGMENTATION DEFECT; X CHROMOSOME LINKED DISORDER;

EID: 84870237249     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35607     Document Type: Article

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