Hearing, speech, language and communicative participation in patients with Apert syndrome: analysis of correlation with Fibroblast Growth Factor Receptor 2 mutation
Apert syndrome (AS) is caused by the heterozygous presence of 1 of 2 specific missense mutations of the fibroblast growth factor receptor 2 (FGFR2) gene. The 2 adjacent substitutions, designated p.Ser252Trp (S252W) and p.Pro253Arg (P253R), account for more than 98% of cases. Previous research has id...
| मुख्य लेखकों: | , , , , , , , , |
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| स्वरूप: | Journal article |
| भाषा: | English |
| प्रकाशित: |
Lippincott, Williams & Wilkins
2021
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