Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis

American Journal of Medical Genetics

Volumn 121 A, Issue 1, 2003, Pages 41-46

  Pardo Vargas, Rosa Andrea ^a   Boff Maegawa, Gustavo Henrique ^b   Castillo Taucher, Silvia ^a   Leite, Júlio César L ^b   Sanz, Patricia ^a   Cifuentes, Juan ^c   Parra, Mauro ^a   Muñoz, Hernán ^a   Maranduba, Carlos Magno ^d   Passos Bueno, Maria R ^d  

^a HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c Section of Gastroenterology   (Chile)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Beare Stevenson syndrome; Craniosynostosis; FGFR2 gene

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PRIMER DNA; PROTEIN TYROSINE KINASE;

ARTICLE; BEARE STEVENSON SYNDROME; BRAZIL; CASE REPORT; CHILD; CHILE; CHOANA ATRESIA; CHROMOSOME ANALYSIS; CRANIOFACIAL SYNOSTOSIS; DNA SEQUENCE; FATALITY; FEMALE; FERTILIZATION IN VITRO; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETICS; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SYNDROME; TUMOR SUPPRESSOR GENE;

SOLEIDAE; TRIFOLIUM;

EID: 10744232683     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20101     Document Type: Article

References (14)

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