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Thanatophoric dysplasia
Gene: FGFR3: exons 7,9,13,14,18
Smith-Lemli-Opitz syndrome
Gene: DHCR7
Smith-Lemli-Opitz syndrome
Gene: DHCR7_MLPA
Muenke syndrome
Gene: FGFR3: p.Pro250Arg
Detection of the known variant
Gene: Gene from the catalog
Craniosynostosis
Gene: FGFR3
Aneuploidy analysis
Gene: Chromosomes 13,18,21,X,Y
Analysis of chromosome aberrations by arrayCGH
Gene: Genome
Achondroplasia
Gene: FGFR3: c.1138G˃A/C
Achondroplasia, hypochondroplasia
Gene: FGFR3: exons 7,9,12,14
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