The SMAD-binding domain of SKI: A hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

European Journal of Human Genetics

Volumn 23, Issue 2, 2015, Pages 224-228

  Schepers, Dorien ^a   Doyle, Alexander J ^b,c   Oswald, Gretchen ^b   Sparks, Elizabeth ^b   Myers, Loretha ^b   Willems, Patrick J ^d   Mansour, Sahar ^e   Simpson, Michael A ^f   Frysira, Helena ^g   Maat Kievit, Anneke ^h   Van Minkelen, Rick ^h   Hoogeboom, Jeanette M ^h   Mortier, Geert R ^a   Titheradge, Hannah ⁱ   Brueton, Louise ⁱ   Starr, Lois ^j   Stark, Zornitza ^k   Ockeloen, Charlotte ^l   Lourenco, Charles Marques ^m   Blair, Ed ⁿ   Hobson, Emma ^o   Hurst, Jane ^p   Maystadt, Isabelle ^q   Destrée, Anne ^q   Girisha, Katta M ^r   Miller, Michelle ^s   Dietz, Harry C ^b,c   Loeys, Bart ^a   Van Laer, Lut ^a   more..

^a UNIVERSITY OF ANTWERP   (Belgium)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d Genetic Diagnostics Belgium   (Belgium)

^e ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF ATHENS   (Greece)

^h ERASMUS MEDICAL CENTER   (Netherlands)

ⁱ BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^j NEBRASKA MEDICAL CENTER   (United States)

^k MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^m UNIVERSITY OF SÃO PAULO   (Brazil)

ⁿ CHURCHILL HOSPITAL   (United Kingdom)

^o CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^p GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^q the Institute of Pathology and Genetic   (Belgium)

^r KASTURBA MEDICAL COLLEGE   (India)

^s JOHNS HOPKINS ALL CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SMAD PROTEIN; TRANSFORMING GROWTH FACTOR BETA; DNA BINDING PROTEIN; ONCOPROTEIN; PROTEIN BINDING; SKI PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GALACTOSIALIDOSIS; GENE; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MOSAICISM; NEXT GENERATION SEQUENCING; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN LOCALIZATION; SCHOOL CHILD; SHPRINTZEN GOLDBERG SYNDROME; SIBLING; SKI GENE; YOUNG ADULT; ARACHNODACTYLY; BINDING SITE; CHEMISTRY; CRANIOSYNOSTOSES; EXON; GENETICS; MARFAN SYNDROME; METABOLISM;

ADOLESCENT; ADULT; ARACHNODACTYLY; BINDING SITES; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DNA-BINDING PROTEINS; EXONS; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN BINDING; PROTO-ONCOGENE PROTEINS; SMAD PROTEINS;

EID: 84921416171     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.61     Document Type: Article

References (20)

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