Unexpected Exome Sequencing Result: De Novo TRPS1 Mutation in an Infant With Infantile Scoliosis, Mild Developmental Delay, and History of Consanguinity

被引：4

作者：

Casci, Ian ^{[1
]}

Accousti, William ^{[2
,3
]}

Lacassie, Yves ^{[3
,4
]}

机构：

[1] LSU Hlth Sci Ctr, Dept Genet, New Orleans, LA 70118 USA

[2] LSU Hlth Sci Ctr, Dept Orthoped, New Orleans, LA 70118 USA

[3] Childrens Hosp, New Orleans, LA USA

[4] LSU Hlth Sci Ctr, Div Genet, Dept Pediat, New Orleans, LA 70118 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2014年 / 164卷 / 05期

关键词：

SYNDROME TYPE-I; TRICHORHINOPHALANGEAL-SYNDROME; FAMILY; PROTEIN; EXON-7; GENE;

D O I：

10.1002/ajmg.a.36430

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

引用

页码：1334 / 1337

页数：4

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