Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: No phenotype-genotype correlation

American Journal of Human Genetics

Volumn 77, Issue 6, 2005, Pages 1117-1128

  Schüle, Birgitt ^a   Oviedo, Angelica ^b   Johnston, Kathreen ^b   Pai, Shashidhar ^c   Francke, Uta ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KAISER PERMANENTE   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COHESIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIRTH WEIGHT; CHROMOSOME 8P; CRANIOFACIAL MALFORMATION; FAMILY STUDY; FEMALE; FETUS ECHOGRAPHY; GENE MUTATION; GENE STRUCTURE; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; GROWTH RETARDATION; HETEROCHROMATIN; HOMOZYGOSITY; HUMAN; HYBRID CELL; MALE; MENTAL DEFICIENCY; MICROCEPHALY; NONSENSE MUTATION; PEDIGREE; PHOCOMELIA; PREGNANCY TERMINATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ROBERTS SYNDROME; SURVIVAL;

EID: 28144464283     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/498695     Document Type: Article

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