Second Case of Beare-Stevenson Syndrome With an FGFR2 Ser372Cys Mutation
- Author
- FONSECA, Renata1 ; COSTA-LIMA, Marcelo A1 2 ; COSENTINO, Viviana3 ; ORIOLI, Iêda M1
[1] ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Fédéral do Rio de Janeiro, Rio de Janeiro, Brazil
[2] Departamento de Biologia Celular e Genética, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil
[3] ECLAMC at Centro de Educación Médica e Investigaciones Clínicas (CEMIC), Buenos Aires, Argentina - Source
American journal of medical genetics. Part A. 2008, Vol 146, Num 5, pp 658-660, 3 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Crouzonoid-like phenotype acanthosis nigricans anogenital anomalies cloverleaf skull craniosynostosis cutis gyrata prominent umbilical stump skin furrows skin tags
- Keyword (fr)
- Acanthosis nigricans Anomalie Anus Appareil génital Crâne en trèfle Crâniosynostose Cuir chevelu Cutis verticis gyrata Etude cas Moignon Mutation Ombilic Peau Phénotype Syndrome Molluscum pendulum Dyskératose Dysostose Hyperkératose Maladie congénitale Malformation Pathologie de la peau Pathologie du crâne Pathologie du système nerveux Pathologie du système ostéoarticulaire Trouble de la pigmentation Tumeur
- Keyword (en)
- Acanthosis nigricans Anomaly Anus Genital system Cloverleaf skull Craniosynostosis Scalp Cutis verticis gyrata Case study Stump Mutation Navel Skin Phenotype Syndrome Molluscum pendulum Dyskeratosis Dysostosis Hyperkeratosis Congenital disease Malformation Skin disease Skull disease Nervous system diseases Diseases of the osteoarticular system Pigmentation disorder Tumor
- Keyword (es)
- Queratosis nigricans Anomalía Ano Aparato genital Cráneo en trébol Craneosinóstosis Cuero cabelludo Cutis verticis gyrata Estudio caso Muñon Mutación Ombligo Piel Fenotipo Síndrome Molluscum pendulum Disqueratosis Disostosis Hiperqueratosis Enfermedad congénita Malformación Piel patología Cráneo patología Sistema nervioso patología Sistema osteoarticular patología Trastorno pigmentación Tumor
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08B Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08F Pigmentary diseases of the skin
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Dermatology Medical genetics Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20188302
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.32176 
https://dx.doi.org/10.1002/ajmg.a.32176
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