• 46,X,i(Xq)/47,XX,+13 mosaicism
• A disease with features of cutis laxa and Ehlers-Danlos syndrome. Report of a mother and daughter
• A Weaver-like syndrome in a Japanese boy
• Anterior cervical hypertrichosis
• Anterior Cervical Hypertrichosis
• Anterior cervical hypertrichosis: a case report and review of the literature
• Anterior cervical hypertrichosis: case report
• Ataxia telangiectasia with generalized skin pigmentation and early death
• Chromosomal aberrations in Sotos syndrome
• Congenital heart defects in Aarskog syndrome
• Hairy throat: a dominant trait affecting seven members of a family
• High resolution-banded chromosomes from patients with Sotos syndrome
• Interstitial deletion of 8p: report of two patients and review of the literature
• Isolated Anterior Cervical Hypertrichosis
• Monozygotic twins discordant for rubinstein-taybi syndrome
• Occipital horn syndrome: report of a patient and review of the literature
• Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome
• Pfeiffer syndrome or Saethre-Chotzen syndrome?
• Premature aging and immunodeficiency: Mulvihill-Smith syndrome?
• Replication patterns of the fragile X in heterozygous carriers: analysis by a BrdUrd antibody method
• The Golabi-Rosen syndrome
• Trismus-pseudocamptodactyly syndrome in a Japanese family
• Two cases of isolated anterior cervical hypertrichosis
• Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II
• Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation