Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

Journal of Medical Genetics

Volumn 47, Issue 11, 2010, Pages 782-785

  Yamazawa, K ^a,b   Nakabayashi, K ^a   Kagami, M ^a   Sato, T ^a   Saitoh, S ^c   Horikawa, R ^d   Hizuka, N ^e   Ogata, Tsutomu ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d NATIONAL CHILDREN S HOSPITAL   (Japan)

^e TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SNRPN; SMALL NUCLEAR RIBONUCLEOPROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOME; CASE REPORT; CELL LINEAGE; CHROMOSOME ANALYSIS; CYTOGENETICS; DNA METHYLATION; EPITHELIUM CELL; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; KARYOTYPE 45,X; KARYOTYPE 46,XX; LEUKOCYTE; MOSAICISM; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SALIVARY GLAND; SILVER RUSSELL SYNDROME; TURNER SYNDROME; UNIPARENTAL DISOMY; X CHROMOSOME; Y CHROMOSOME;

ADULT; CHIMERISM; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; KARYOTYPING; MOSAICISM; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; SILVER-RUSSELL SYNDROME; TURNER SYNDROME; UNIPARENTAL DISOMY;

EID: 77955911119     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.079343     Document Type: Article

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