New syndrome with focal dermal hypoplasia, follicular hamartomas, polysyndactyly, microphthalmia, morning glory optic disc anomaly, agenesis of the corpus callosum and polymicrogyria.

被引：0

作者：

Giampietro, PF

Babu, D

Koehn, M

Jacobson, D

Moretti, C

Patten, SF

Shaffer, LG

Gorlin, RJ

Peng, Y

Dobyns, WB

机构：

[1] Marshfield Clin Fdn Med Res & Educ, Marshfield, WI USA

[2] Baylor Coll Med, Houston, TX 77030 USA

[3] Univ Minnesota, Dept Oral Pathol & Genet, Minneapolis, MN USA

[4] Univ Chicago, Dept Human Genet, Chicago, IL USA

来源：

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D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

493

引用

页码：256 / 256

页数：1

共 2 条

[1] New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria
Giampietro, PF
Babu, D
Koehn, MA
Jacobson, DM
Mueller-Schrader, KA
Moretti, C
Patten, SF
Shaffer, LG
Gorlin, RJ
Dobyns, WB
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 124A (02): : 202 - 208
[2] Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies
Jonas, RE
Kimonis, VE
Morales, A
AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 73 (02): : 184 - 188