Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene-Reference-Cited by-同舟云学术

Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene

Published:2019-10-06 Issue:12 Volume:179 Page:2490-2493
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Forster Katherine R.¹^ORCID,Hooper Jody E.²,Blakemore Karin J.³,Baschat Ahmet A.¹,Hoover‐Fong Julie⁴^ORCID

Affiliation:

1. Johns Hopkins Center for Fetal Therapy, Department of Gynecology and Obstetrics Johns Hopkins University Baltimore Maryland

2. Department of Pathology Johns Hopkins University Baltimore Maryland

3. Maternal Fetal Medicine, Department of Gynecology and Obstetrics, McKusick‐Nathans Institute of the Department of Genetic Medicine Johns Hopkins University Baltimore Maryland

4. Greenberg Center for Skeletal Dysplasias, McKusick‐Nathans Institute of the Department of Genetic Medicine, Department of Pediatrics Johns Hopkins University Baltimore Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61372

Reference16 articles.

1. Homozygosity mapping: One more tool in the clinical geneticist's toolbox

2. Committee Opinion No. 581

3. A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

4. XYLT1 Mutations in Desbuquois Dysplasia Type 2

5. Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs;Desbuquois G.;Archives Franc Pédiatrie,1966

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