9q22 deletion - First familial case

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Siggberg, Linda ^a   Peippo, Maarit ^b   Sipponen, Marjatta ^b   Miikkulainen, Taina ^b   Shimojima, Keiko ^c   Yamamoto, Toshiyuki ^c   Ignatius, Jaakko ^d   Knuutila, Sakari ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b Family Federation of Finland ^*  (Finland)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d TURKU UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ACICLOVIR; PHENOBARBITAL; PROTEIN KINASE SYK; PROTEIN TYROSINE KINASE; RECEPTOR TYROSINE KINASE LIKE ORPHAN RECEPTOR; ROR2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ARTICLE; BRACHYDACTYLY; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME 9Q; CHROMOSOME DELETION; DYSARTHRIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FUNNEL CHEST; HUMAN; KIDNEY HYPOPLASIA; LYMPHOCYTE; MALE; MENTAL DEFICIENCY; MOSAICISM; OTITIS MEDIA; PALPEBRAL FISSURE; ROBINOW SYNDROME; SIBLING; UPPER RESPIRATORY TRACT INFECTION; ADULT; BODY DYSMORPHIC DISORDER; CHROMOSOME 9; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; FAMILY; GENETIC ASSOCIATION; GENETICS; INTELLECTUAL IMPAIRMENT; PATHOLOGY; PRESCHOOL CHILD;

ADULT; BODY DYSMORPHIC DISORDERS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROTEIN-TYROSINE KINASES; RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTORS;

EID: 79959340351     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-45     Document Type: Article

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