Holoprosencephaly: report of four cases and genotype-phenotype correlations

被引：8
|
作者：
Lami, Francesca [1 ]
Carli, Diana [2 ]
Ferrari, Paola [1 ]
Marini, Monica [3 ,4 ]
Alesi, Viola [5 ]
Iughetti, Lorenzo [1 ]
Percesepe, Antonio [2 ]
机构：
[1] Univ Modena, Dept Mother & Child, Pediat Unit, I-41124 Modena, Italy
[2] Univ Modena, Dept Mother & Child, Med Genet Unit, I-41124 Modena, Italy
[3] Univ Genoa, Dept Pediat, Mol Genet Lab, I-16147 Genoa, Italy
[4] Univ Genoa, CEBR, I-16147 Genoa, Italy
[5] S Pietro Fatebenefratelli Hosp, Med Genet Unit, I-00189 Rome, Italy
来源：
JOURNAL OF GENETICS | 2013年 / 92卷 / 01期
关键词：
holoprosencephaly; Currarino syndrome; 7q36; deletion; SHH gene mutation; SONIC-HEDGEHOG GENE; CURRARINO-SYNDROME; HIRSCHSPRUNGS-DISEASE; SPECTRUM; MUTATION; EXPRESSION; RANGE; TRIAD; SHH;
D O I：
10.1007/s12041-013-0215-5
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：97 / 101
页数：5
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