A new case of Pfeiffer syndrome with mutation in FGFR2
(1997) In Genetic Counseling 8(4). p.303-309- Abstract
- We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise. SSCP and direct sequencing revealed a missense mutation at position 1037 of the exon B (or IIIc) of the FGFR2 gene (codon 342) resulting in a cysteine to serine modification (TGC-TCC). Genotype-phenotype correlations between the FGFRs mutations and the different craniosynostotic syndromes are discussed.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1112552
- author
- Addor, M C ; Gudinchet, F ; Laurini, Ricardo LU ; Pescia, G and Schorderet, D F
- publishing date
- 1997
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Genetic Counseling
- volume
- 8
- issue
- 4
- pages
- 303 - 309
- publisher
- Editions Médecine et hygiène
- external identifiers
-
- pmid:9457499
- scopus:0031440036
- ISSN
- 1015-8146
- language
- English
- LU publication?
- no
- id
- 7ede6120-905f-437f-afc8-8812bca5c904 (old id 1112552)
- date added to LUP
- 2016-04-01 16:14:44
- date last changed
- 2022-01-28 18:17:45
@article{7ede6120-905f-437f-afc8-8812bca5c904, abstract = {{We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise. SSCP and direct sequencing revealed a missense mutation at position 1037 of the exon B (or IIIc) of the FGFR2 gene (codon 342) resulting in a cysteine to serine modification (TGC-TCC). Genotype-phenotype correlations between the FGFRs mutations and the different craniosynostotic syndromes are discussed.}}, author = {{Addor, M C and Gudinchet, F and Laurini, Ricardo and Pescia, G and Schorderet, D F}}, issn = {{1015-8146}}, language = {{eng}}, number = {{4}}, pages = {{303--309}}, publisher = {{Editions Médecine et hygiène}}, series = {{Genetic Counseling}}, title = {{A new case of Pfeiffer syndrome with mutation in FGFR2}}, volume = {{8}}, year = {{1997}}, }