Disease: Tsukahara Kajii syndrome
- 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