Editorial

• New Paradigms in Medical Genetics
  STS Lam

Original Article

• Phenotypic Spectrum of 3 Pseudohypoparathyroidism type 1a, and 2 Pseudopseudohypoparathyroidism Chinese Patients with Novel GNAS Mutations
  ACF Lam, DHC Chan, KKS Lai, TMF Tong, IFM Lo, STS Lam

• A Clinical and Molecular Study of 51 Chinese Families with Noonan Syndrome
  DKH Chan, IFM Lo, ACF Lam, TMF Tong, DHC Chan, STS Lam

Current Topic

• Ethical Issues in Genotyping for Pharmacogenetics and Genetic Disorders
  HM Sass

Occasional Survey

• Disclosing Genetic Information to Relatives or Carriers?
  S Froehlich, HM Sass, Y Wang

Case Report

• Smith-Magenis Syndrome in Chinese with Previously Unreported Craniofacial Features and Association with Joubert Phenotype
  ACF Lam, KKS Lai, ATC Chau, LPK Cheng, STS Lam

• Distinctive Phenotype in a Case of Ring Chromosome 22 with Features of 22q13.3 Deletion Syndrome
  ACF Lam, KKS Lai, STS Lam

• Thanatophoric Dysplasia Type 1 (TD1) without "Telephone Receivers"
  ACF Lam, YY Lam, TMF Tong, DKH Chan, WL Lau, DKK Ng, CS Ho, Kw Chan, STS Lam

• Boomerang Dysplasia in a Chinese Female Fetus
  ACF Lam, SJ Hu, TMF Tong, STS Lam

• A Novel Mutation of the EBP Gene Causes Conradi-Huner mann Syndrome
  IFM Lo, W Kwong, RSY Lee, S Tam, TMF Tong, DKK Ng, STS Siu, STS Lam

• Thanatophoric Dysplasia Variant, San Diego Type in a Chinese Fetus, Caused by C746G Missense Mutation in FGFR3 Gene
  ACF Lam, TMF Tong, MHY Tang, S Lo, CP Lee, E Lau, STS Lam

• Desbuquois Syndrome Atypical Hands Subtype with No Mutation in FLNB Gene
  ACF Lam, KKS Lai, DHC Chan, TMF Tong, STS Lam

• Diagnostic Difficulties in Sanfilippo Disease
  DKH Chan, CW Lam, STS Lam

• A Case of Perinatal Lethal Form of Hypophosphatasia; and Review of Literatures
  ACF Lam, CW Lam, MHY Tang, JWY Chu, STS Lam