Cerebro-Facio-Thoracic Dysplasia: Report of Three Cases-Reference-Cited by-同舟云学术

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Cerebro-Facio-Thoracic Dysplasia: Report of Three Cases

Published:2008-11-12 Issue:3 Volume:17 Page:343-351
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:

Author:

Pascual-Castroviejo I.,Santolaya J. M.,Martin V. Looez,Rodriguez-Costa T.,Tendero A.,Mulas F.

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-8749.1975.tb04673.x/fullpdf

Reference19 articles.

1. Malformaciones del cuerpo calloso y del tabique transparente. Clasificación por estudio neumoencefalografico;Castroviejo;Radiologia,1969

2. Spondylo-thoracic dysplasia in three sisters;Rodriguez-Costa;Developmental Medicine and Child Neurology,1973

3. Mental retardation with osteo-cartilagenous anomalies;Coffin;American Journal of Diseases of Children,1966

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1. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature;European Journal of Medical Genetics;2023-03

2. C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia;European Journal of Medical Genetics;2022-11

3. Ca2+ homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling;Cell Death & Disease;2022-08-04

4. Brain and spine MRI findings in children presenting with TMCO1 mutation;BJR|case reports;2022-06-08

5. From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1;Frontiers in Genetics;2021-05-20

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