PTPN11

Deellabo: PGD DNA
Gen (Gen Code): PTPN11
Aliases Gen: CFC; NS1; SHP2; BPTP3; PTP2C; PTP-1D; SH-PTP2; SH-PTP3; MGC14433; PTPN11
Gen ID (NCBI): 5781
OMIM Gen ID: 176876
Chromosomale locatie: 12q24
Genetische aandoening / Analyse: Noonan syndroom
OMIM aandoening ID: 163950
Overerving: AD
Aliases aandoening: NOONAN SYNDROME 1; NS1
NOONAN SYNDROME
MALE TURNER SYNDROME
FEMALE PSEUDO-TURNER SYNDROME
TURNER PHENOTYPE WITH NORMAL KARYOTYPE

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