A Pfeiffer phenotype in association with the common Apert FGFR2 S252W mutation: A clinical report and likely molecular explanation

被引：0
|
作者：
Saad, Ramy [1 ]
Barns-Jenkins, Caitlin [1 ]
Lawn, Claire [1 ]
James, Gregory [2 ]
Jeelani, Noor Ul Owase [2 ]
Wilkie, Andrew [3 ,4 ]
Wilson, Louise [1 ]
机构：
[1] Great Ormond St Hosp Children NHS Fdn Trust, North East Thames Reg Genet Serv, London, England
[2] UCL Great Ormond St Inst Child Hlth & Craniofacia, Great Ormond St Hosp Children, London, England
[3] Univ Oxford, MRC Weatherall Inst Mol Med, Oxford, England
[4] Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P13.004.B
引用
收藏
页码：1536 / 1537
页数：2
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