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Schema
>
Person
>
Entries
Le Merrer, M
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created
[InstanceEdit:2029771] Rothfels, K, 2012-01-04
dbId
2029770
displayName
Le Merrer, M
firstname
Martine
initial
M
publications
[LiteratureReference:2038356] Stop codon FGFR3 mutations in thanatophoric dwarfism type 1
[LiteratureReference:2045073] Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
[LiteratureReference:2029812] Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
[LiteratureReference:2426335] Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
[LiteratureReference:2060831] Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
[LiteratureReference:3322922] Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
[LiteratureReference:5678426] Cantú syndrome is caused by mutations in ABCC9
[LiteratureReference:9861705] NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
[LiteratureReference:5675667] Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
[LiteratureReference:5618151] Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
schemaClass
Person
surname
Le Merrer
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