An Additional Clinical Sign of 17q21.31 Microdeletion Syndrome: Preaxial Polydactyly of Hands with Broad Thumbs

被引：5

作者：

Barone, Chiara ^{[1
]}

Novelli, Antonio ^{[2
]}

Capalbo, Anna ^{[3
,4
]}

del Grano, Antonella Cataliotti ^{[1
]}

Giuffrida, Maria Grazia ^{[3
,4
]}

Indaco, Lara ^{[1
]}

Bianca, Sebastiano ^{[1
]}

机构：

[1] ARNAS Garibaldi Nesima, Ctr Consulenza Genet & Teratol Riprod, Dipartimento Materno Infantile, I-95123 Catania, Italy

[2] IRCCS, Bambino Gesu Childrens Hosp, Med Genet Unit, Rome, Italy

[3] Lab Mendel, Rome, Italy

[4] Osped IRCCS Casa Sollievo Sofferenza, San Giovanni Rotondo, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 07期

关键词：

KANSL1; CAUSE; DUPLICATION; MUTATIONS;

D O I：

10.1002/ajmg.a.37054

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1671 / 1673

页数：3

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