First European case of Noonan syndrome-like disorder with loose anagen hair-2 caused by the recurrent c.146C>G missense variant in PPP1CB: broadening the clinical spectrum

被引：0

作者：

Pizza, Antonella ^{[1
]}

Minale, Elia Marco Paolo ^{[2
,3
]}

Venturino, Danilo ^{[2
,3
]}

De Falco, Luigia ^{[4
]}

Evangelista, Eloisa ^{[4
]}

D'Ambrosio, Paola ^{[5
]}

Nigro, Vincenzo ^{[1
,6
]}

Fico, Antonio ^{[4
]}

Piscopo, Carmelo ^{[5
]}

机构：

[1] Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy

[2] Univ Napoli Federico II, Dipartimento Med Mol & Biotecnol Med, Naples, Italy

[3] CEINGE Biotecnol Avanzate, Naples, Italy

[4] Ames Ctr Polidiagnost Strumentale Srl, Casalnuovo Napoli, Naples, Italy

[5] AORN Antonio Cardarelli, Med & Lab Genet Unit, Naples, Italy

[6] Telethon Inst Genet & Med TIGEM, Naples, Italy

来源：

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：

EP12.049

引用

页码：242 / 242

页数：1

First European case of Noonan syndrome-like disorder with loose anagen hair-2 caused by the recurrent c.146C&gt;G missense variant in PPP1CB: broadening the clinical spectrum