Research article summary (published 30 Jul 2009):

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

Full Abstract

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Author information

Author/s: Slavotinek, Anne (A); Crawford, Howard (H); Golabi, Mahin (M); Tao, Cathy (C); Perry, Hazel (H); Oberoi, Sneha (S); Vargervik, Karin (K); Friez, Michael (M);

Affiliation: Department of Pediatrics, University of California, San Francisco, 94143-0748, USA. slavotia(-atsign-)peds.ucsf.edu

Grants: K08HD053476-01A1 (Agency:NICHD NIH HHS)

Journal and publication information

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal: American journal of medical genetics. Part A (Am J Med Genet A), published in United States. (Language: eng)

Reference: 2009-Aug; vol 149A (issue 8) : pp 1814-7

Dates: Created 2009/07/30; Completed 2009/09/30;

PMID: 19610084, status: MEDLINE (last retrieved date: 9/30/2009)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MeSH Headings (categories) shown below.

Abnormalities, Multiple - genetics Base Sequence Child DNA Mutational Analysis Face Gene Deletion Humans

Humans Infant Infant, Newborn Male Molecular Sequence Data Receptor, Fibroblast Growth Factor, Type 2 - genetics Syndrome

Note: Bold headings indicate primary MeSH headings or qualifiers.

Associated Chemicals: FGFR2 protein, human (EC 2.7.1.112) ; Receptor, Fibroblast Growth Factor, Type 2 (EC 2.7.1.112)

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