Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

eLife

Volumn 5, Issue September2016, 2016, Pages

  Timberlake, Andrew T ^a   Choi, Jungmin ^a   Zaidi, Samir ^a   Lu, Qiongshi ^a   Nelson Williams, Carol ^a   Brooks, Eric D ^a   Bilguvar, Kaya ^a   Tikhonova, Irina ^a   Mane, Shrikant ^a   Yang, Jenny F ^a   Sawh Martinez, Rajendra ^a   Persing, Sarah ^a   Zellner, Elizabeth G ^a   Loring, Erin ^a   Chuang, Carolyn ^a   Galm, Amy ^b   Hashim, Peter W ^a   Steinbacher, Derek M ^a   DiLuna, Michael L ^a   Duncan, Charles C ^a   Pelphrey, Kevin A ^c   Zhao, Hongyu ^a   Persing, John A ^a   Lifton, Richard P ^a,d   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Craniosynostosis and Positional Plagiocephaly Support   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; MITOGEN ACTIVATED PROTEIN KINASE; SMAD6 PROTEIN; TRANSCRIPTION FACTOR RUNX2; BMP2 PROTEIN, HUMAN; SMAD6 PROTEIN, HUMAN;

ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; EXOME; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; NON SYNDROMIC MIDLINE CRANIOSYNOSTOSIS; PHENOTYPIC VARIATION; SINGLE NUCLEOTIDE POLYMORPHISM; DNA SEQUENCE; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; MUTATION; PENETRANCE;

ALLELES; BONE MORPHOGENETIC PROTEIN 2; CRANIOSYNOSTOSES; EXOME; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MUTATION; PENETRANCE; SEQUENCE ANALYSIS, DNA; SMAD6 PROTEIN;

EID: 84989283933     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.20125     Document Type: Article

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