Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

Journal of Medical Genetics

Volumn 51, Issue 2, 2014, Pages 90-97

  Postma, A V ^a   Alders, M ^a   Sylva, M ^a   Bilardo, C M ^a,b   Pajkrt, E ^a   van Rijn, R R ^a   Schulte Merker, S ^c   Bulk, S ^c   Stefanovic, S ^a   Ilgun, A ^a   Barnett, P ^a   Mannens, M M A M ^a   Moorman, A F M ^a   Oostra, R J ^a   van Maarle, M C ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL GENETICS; DEVELOPMENTAL; GENOME-WIDE; LINKAGE;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE, TUMOR; CELL PROLIFERATION; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; FEMALE; FETAL PROTEINS; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; NOTOCHORD; OSSIFICATION, HETEROTOPIC; PEDIGREE; PROTEIN BINDING; PROTEIN TRANSPORT; SACRUM; SPINE; SYNDROME; T-BOX DOMAIN PROTEINS; ULTRASONOGRAPHY, PRENATAL;

EID: 84894042524     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102001     Document Type: Article

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