Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009.

Clinical dysmorphology ·Vol. 22 ·No. 1 ·2013-01-00 ·页码 42-3

Santoro C, Malan V, Bertoli M, Boddaert N, Vidaud D, Lyonnet S

Abstract

暂无摘要

MeSH 主题词

Brain/blood supply Developmental Disabilities Face/abnormalities Facies Female Humans

作者与单位

共 6 位作者，点击展开单位 / ORCID

Santoro Claudia

Malan Valérie

Bertoli Marta

Boddaert Nathalie

Vidaud Dominique

Lyonnet Stanislas

Article Info

Journal

Clinical dysmorphology

Abbr.

Clin Dysmorphol

ISSN

1473-5717

DOI

Published

2013-01-00

页码

42-3

Language

English

Country/Region

England

NLM ID

9207893

勘误 / 撤稿关联

CommentOn

PMID: 19057380

External Links

Analysis Services