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Publications by Jiaolong Liu
A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly
Frontiers in Genetics
Genetics
Molecular Medicine
Related publications
A Novel FBN2 Mutation Cosegregates With Congenital Contractural Arachnodactyly in a Five-Generation Chinese Family
Clinical Case Reports
Medicine
Identification of a Novel Missense FBN2 Mutation in a Chinese Family With Congenital Contractural Arachnodactyly Using Exome Sequencing
PLoS ONE
Multidisciplinary
Mutation Analysis of Fibrillin-2 (FBN2) and Microfibril Associated Protein-3 (MFAP-3): Two Genes Associated With Congenital Contractural Arachnodactyly (CCA), Also Known as Beal's Syndrome
A Novel MIP Gene Mutation Analysis in a Chinese Family Affected With Congenital Progressive Punctate Cataract
PLoS ONE
Multidisciplinary
A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report
BMC Medical Genetics
Genetics
Contractural Arachnodactyly Versus Marfan's Syndrome.
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Identification and Functional Analysis of a Novel MIP Gene Mutation Associated With Congenital Cataract in a Chinese Family
PLoS ONE
Multidisciplinary
Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report
BMC Pediatrics
Child Health
Pediatrics
Perinatology
Novel Mutation in GJB4 Gene (Connexin 30.3) in a Family With Erythrokeratodermia Variabilis
Acta Dermato-Venereologica
Dermatology
Medicine
