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Last Updated: 10/31/2025
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Found 14 publications
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Journal: BMC medical genomics
Published: July 16, 2024
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.
Journal: Prenatal diagnosis
Published: April 04, 2024
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.
Journal: Clinical dysmorphology
Published: March 08, 2022
Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.
Journal: BMC pediatrics
Published: May 17, 2019
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata.
Journal: Clinical dysmorphology
Published: June 19, 2018
Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia.
Journal: The Turkish journal of pediatrics
Published: January 01, 2017
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Journal: American journal of medical genetics. Part A
Published: April 08, 2013
Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.
Journal: Annals of clinical and laboratory science
Published: March 07, 2013
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 06, 2012
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
Journal: American journal of medical genetics. Part A
Published: October 03, 2012
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.
Journal: Congenital anomalies
Published: September 24, 2012
Last Updated: 10/31/2025