FGFR3
fibroblast growth factor receptor 3
Ассоциированные заболевания
Герминативная мутация (причина)7
Thanatophoric dysplasia type 1ORPHA:1860
→Lacrimoauriculodentodigital syndromeORPHA:2363
→Non-syndromic bicoronal craniosynostosisORPHA:35099
→Muenke syndromeORPHA:53271
→Crouzon syndrome-acanthosis nigricans syndromeORPHA:93262
→Thanatophoric dysplasia type 2ORPHA:93274
→Severe achondroplasia-developmental delay-acanthosis nigricans syndromeORPHA:85165
→Disease-causing germline mutation(s) (gain of function) in2
Часть слитого гена2
Ген-кандидат1
Disease-causing germline mutation(s) (loss of function) in1