Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
Open Access
- 1 August 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (4), 286-289
- https://doi.org/10.1136/jmg.21.4.286
Abstract
Two additional families with Pfeiffer's syndrome are reported in which the wide variability of gene expression is demonstrated.Keywords
This publication has 10 references indexed in Scilit:
- Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological DiseasesDevelopmental Medicine and Child Neurology, 1982
- Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome)British Journal of Dermatology, 1982
- TrichothiodystrophyArchives of Dermatology, 1980
- Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complexArchives of Dermatology, 1980
- Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities: A link between the ichthyosis-associated and BIDS syndromesJournal of the American Academy of Dermatology, 1980
- Intermediate filaments as mechanical integrators of cellular spaceNature, 1980
- A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature.1976
- "Brittle" Hair With Short Stature, Intellectual Impairment and Decreased Fertility: An Autosomal Recessive Syndrome in an Amish KindredPediatrics, 1974
- The electron histochemistry of cystine—containing proteins in thin transverse sections of human hairJournal of the Royal Microscopical Society, 1968
- Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.Archives of Disease in Childhood, 1968