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Last Updated: 10/31/2025

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Found 40 publications

Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.

Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.

Journal: Taiwanese journal of obstetrics & gynecology
Published: November 15, 2024

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

Journal: International journal of molecular sciences
Published: August 20, 2024

Cant1 Affects Cartilage Proteoglycan Properties: Aggrecan and Decorin Characterization in a Mouse Model of Desbuquois Dysplasia Type 1.

Cant1 Affects Cartilage Proteoglycan Properties: Aggrecan and Decorin Characterization in a Mouse Model of Desbuquois Dysplasia Type 1.

Journal: Biomolecules
Published: June 24, 2024

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

Journal: American journal of medical genetics. Part A
Published: March 25, 2024

Antenatal Phenotype of Desbuquois Dysplasia.

Antenatal Phenotype of Desbuquois Dysplasia.

Journal: Indian journal of pediatrics
Published: September 07, 2022

Phenotypic Characterization of Immortalized Chondrocytes from a Desbuquois Dysplasia Type 1 Mouse Model: A Tool for Studying Defects in Glycosaminoglycan Biosynthesis.

Phenotypic Characterization of Immortalized Chondrocytes from a Desbuquois Dysplasia Type 1 Mouse Model: A Tool for Studying Defects in Glycosaminoglycan Biosynthesis.

Journal: International journal of molecular sciences
Published: June 25, 2021

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.

Journal: BMC pediatrics
Published: May 15, 2021

Desbuquois dysplasia Kim variant: a rare case report syndrome.

Desbuquois dysplasia Kim variant: a rare case report syndrome.

Journal: Clinical dysmorphology
Published: November 02, 2020

Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I

Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 09, 2019

CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.

CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.

Journal: FEBS open bio
Published: November 22, 2019

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Published: September 13, 2019

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.

Journal: Clinical dysmorphology
Published: July 27, 2019
Showing 1-12 of 40

Last Updated: 10/31/2025