p.Ser348Cys mutation in FGFR3 gene leads to ``Mild ACH /Severe HCH{''} phenotype
| dc.contributor.author | Bengur, Fuat Baris | |
| dc.contributor.author | Ekmekci, Cumhur Gokhan | |
| dc.contributor.author | Karaarslan, Ercan | |
| dc.contributor.author | Gunoz, Hulya | |
| dc.contributor.author | Alanay, Yasemin | |
| dc.date.accessioned | 2025-10-16T15:21:57Z | |
| dc.date.issued | 2020 | |
| dc.identifier.doi | 10.1016/j.ejmg.2019.04.016 | |
| dc.identifier.other | WOS:000513236300018 | |
| dc.identifier.uri | https://openaccess.acibadem.edu.tr/handle/11443/7758 | |
| dc.publisher | ELSEVIER | |
| dc.source | EUROPEAN JOURNAL OF MEDICAL GENETICS | |
| dc.subject | Achondroplasia | |
| dc.subject | Hypochondroplasia | |
| dc.subject | Acanthosis nigricans | |
| dc.subject | FGFR3 | |
| dc.title | p.Ser348Cys mutation in FGFR3 gene leads to ``Mild ACH /Severe HCH{''} phenotype | |
| dc.type | Article |
