Associated Papers
Successful pre-implantation genetic testing for autosomal recessive cutis laxa: clinical utility of a multidisciplinary team approach.
Huang Q et al.
Journal of Assisted Reproduction and Genetics, 2025
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.
Huang YW et al.
Aging and Disease, 2018
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
Lin DS et al.
American Journal of Medical Genetics. Part A, 2011
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
Lin DS et al.
American Journal of Medical Genetics. Part A, 2011
Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.
Nouri N et al.
Pediatric Dermatology, 0
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