Further delineation of the phenotype of Noonan syndrome with loose anagen hair due to de novo missense variants in the PPP1CB gene

被引：0

作者：

Leenders, Erika ^{[1
]}

Kocherscheid, Luisa ^{[2
]}

Pantaleoni, Francesca ^{[3
]}

Pouvreau, Nathalie ^{[4
]}

Lissewski, Christina ^{[2
]}

Kamphausen, Susanne ^{[2
]}

Brinkmann, Julia ^{[2
]}

Bonnard, Alice ^{[4
]}

Schanze, Denny ^{[2
]}

Dentici, Marialisa ^{[3
]}

Digilio, Maria Cristina ^{[3
]}

Mazzanti, Laura ^{[5
]}

Kayserili, Hulya ^{[6
]}

Simsek-Kiper, Pelin Ozlem ^{[7
]}

Seidel, Heide ^{[8
]}

Kutsche, Kerstin ^{[9
]}

Fleisher, Nicole ^{[10
]}

Koolen, David ^{[1
]}

Chung, Brian Hon Yin ^{[11
]}

Fung, Jasmine

Larson, Austin ^{[12
,13
]}

Minasi, Lysa ^{[14
]}

Hsieh, Tzung-Chien ^{[15
]}

Krawitz, Peter ^{[15
]}

Shinawi, Marwan ^{[16
]}

Van Bever, Yolande ^{[17
]}

Boute, Odile ^{[18
]}

Engels, Hartmut ^{[19
,20
]}

Grootenhaar, Maike ^{[1
]}

Rinne, Tuula ^{[1
]}

Gripp, Karen ^{[21
]}

Cave, Helene ^{[4
]}

Wessels, Marja

Verloes, Alain ^{[4
]}

Tartaglia, Marco ^{[3
]}

Zenker, Martin

机构：

[1] RadboudUMC, Human Genet, Nijmegen, Netherlands

[2] Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany

[3] Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy

[4] Assistance Publ Hop Paris, Dept Genet, Paris, France

[5] Univ Bologna, St Orsola Univ Hosp, Dept Pediat, Pediat Rare Dis Unit, Bologna, Italy

[6] Koc Univ, Med Genet Dept, Sch Med KUSOM, Istanbul, Turkiye

[7] Hacettepe Univ, Dept Pediat, Ankara, Turkiye

[8] Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany

[9] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

[10] FDNA Inc, Boston, MA USA

[11] Univ Hong Kong, Li Ka Shing Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

[12] Univ Colorado, Sch Med, Aurora, CO USA

[13] Childrens Hosp Colorado, Genet Sect, Dept Pediat, Aurora, CO USA

[14] Pontificia Univ Catolica Goias, Nucleo Pesquisas Replicon, Escola Ciencias Agrarias Biol, Mestrado Genet, Goiania, Go, Brazil

[15] Rhein Friedrich Wilhelms Univ Bonn, Univ Hosp Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany

[16] Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO USA

[17] Erasmus MC, Dept Clin Genet, Sophia Childrens Hosp, Rotterdam, Netherlands

[18] Hop Jeanne Flandre, Serv Genet Clin, CLAD Nord, Lille, France

[19] Univ Bonn, Inst Human Genet, Bonn, Germany

[20] Univ Hosp Bonn, Bonn, Germany

[21] Al DuPont Hosp Children Nemours, Div Med Genet, Dept Pediat, Wilmington, DE USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：

EP12.054

引用

页码：233 / 234

页数：2