Bannayan-Riley-Ruvalcaba syndrome

R. J. Gorlin; M. M. Cohen; L. M. Condon; B. A. Burke

doi:10.1002/ajmg.1320440309

Bannayan-Riley-Ruvalcaba syndrome

R. J. Gorlin, M. M. Cohen, L. M. Condon, B. A. Burke

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244 Citations (Scopus)

Résumé

Here we report on 12 affected members of a family with Bannayan-Riley- Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan- Zonana syndrome. Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy.

Langue d'origine	English
Pages (de-à)	307-314
Nombre de pages	8
Journal	American Journal of Medical Genetics
Volume	44
Numéro de publication	3
DOI	https://doi.org/10.1002/ajmg.1320440309
Statut de publication	Published - 1992
Publié à l'externe	Oui

ASJC Scopus Subject Areas

Genetics(clinical)

PubMed: MeSH publication types

Case Reports
Journal Article

Accès au document

10.1002/ajmg.1320440309

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title = "Bannayan-Riley-Ruvalcaba syndrome",

abstract = "Here we report on 12 affected members of a family with Bannayan-Riley- Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan- Zonana syndrome. Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy.",

author = "Gorlin, {R. J.} and Cohen, {M. M.} and Condon, {L. M.} and Burke, {B. A.}",

year = "1992",

doi = "10.1002/ajmg.1320440309",

language = "English",

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AU - Gorlin, R. J.

AU - Cohen, M. M.

AU - Condon, L. M.

AU - Burke, B. A.

PY - 1992

Y1 - 1992

N2 - Here we report on 12 affected members of a family with Bannayan-Riley- Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan- Zonana syndrome. Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy.

AB - Here we report on 12 affected members of a family with Bannayan-Riley- Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan- Zonana syndrome. Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy.

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JF - American Journal of Medical Genetics

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ER -

Bannayan-Riley-Ruvalcaba syndrome

Résumé

ASJC Scopus Subject Areas

PubMed: MeSH publication types

Accès au document

Autres fichiers et liens

Empreinte numérique

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