Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
Saini N et al.
Prenatal Diagnosis, 2022
Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.
Sun L et al.
Frontiers in Genetics, 2022
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Nayak SS et al.
Scientific Reports, 2021
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.
Phokaew C et al.
European Journal of Medical Genetics, 2020
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.
Aggarwal S et al.
European Journal of Medical Genetics, 2018
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