Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association-Reference-Cited by-同舟云学术

Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association

Published:2010 Issue: Volume: Page:NA-NA
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defect Res A

Author:

de Azevedo Moreira Lilia Maria,Matos Marcos A.,Schiper Patricia P.,Carvalho Acácia F.L.,Gomes Ivalda C.,Rolemberg José C.,de Lima Renata L.L. Ferreira,Toralles Maria B.P.

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdra.20653/fullpdf

Reference14 articles.

1. Congenital generalized bone dysplasias: a clinical, radiological, and epidemiological survey;Andersen;J Med Genet,1989

2. Late paternity and stillbirth risk;Astolfi;Hum Reprod,2004

3. Achondroplasia associated with Down syndrome;Carakushansky;Am J Med Genet,1998

4. FGFR3 gene mutation (Gly 380 Arg) with Achondroplasia and i(21q) Down Syndrome: phenotype-genotype correlation;Chen;Southern Med J,2000

5. A morphometric analysis of the craniofacial configuration in achondroplasia;Cohen;J Craniofac Genet Dev Biol Suppl,1985

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient;International Journal of Molecular Sciences;2023-10-24

2. What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review;Genes;2023-01-12

3. Associated anomalies in cases with achondroplasia;European Journal of Medical Genetics;2022-11

4. Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use;American Journal of Medical Genetics Part A;2020-11-21

5. Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study;BMC Musculoskeletal Disorders;2020-10-08