Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome

Journal of Human Genetics

Volumn 60, Issue 12, 2015, Pages 781-785

  Urquhart, Jill E ^a,b   Williams, Simon G ^b   Bhaskar, Sanjeev S ^b   Bowers, Naomi ^b   Clayton Smith, Jill ^a,b   Newman, William G ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN ASSOCIATED GLYCOPROTEIN;

ADULT; ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME DELETION; DUBOWITZ SYNDROME; EXOME; EXON; HUMAN; MALE; MONOZYGOTIC TWINS; PHENOTYPE; RECESSIVE INHERITANCE; SINGLE NUCLEOTIDE POLYMORPHISM; STRABISMUS; CHROMOSOME 19; ECZEMA; FACIES; GENE DELETION; GENETICS; GROWTH DISORDER; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; NUCLEOTIDE SEQUENCE; PATHOLOGY; TWINS;

ADULT; ALLELES; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 19; ECZEMA; FACIES; GROWTH DISORDERS; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; SEQUENCE DELETION; TWINS, MONOZYGOTIC;

EID: 84950993826     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.111     Document Type: Article

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