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Syndromes of the Head and Neck
Deformations and disruptions Teratogenic agents Chromosomal syndromes I: common and/or well known syndromes Chromosomal syndromes II: unusual variants METABOLIC DISORDERS the mucopolysaccharidoses…
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
The identification of mutations in CXCR4 in individuals with WHIM syndrome represents the first example of aberrant chemokine receptor function causing human disease and suggests that the receptor may be important in cell-mediated immunity to HPV infection.
International collaborative study on ghost cell odontogenic tumours: calcifying cystic odontogenic tumour, dentinogenic ghost cell tumour and ghost cell odontogenic carcinoma.
- C. Ledesma-Montes, R. Gorlin, A. Meneses-García
- MedicineJournal of oral pathology & medicine : official…
- 1 May 2008
The results suggest that ghost cell odontogenic tumours comprise a heterogeneous group of neoplasms which need further studies to define more precisely their biological behaviour.
Nevoid basal cell carcinoma (Gorlin) syndrome
- R. Gorlin
- MedicineGenetics in Medicine
- 1 November 2004
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by large numbers of basal cell cancers and epidermal cysts of the skin, odontogenic keratocysts of the jaws, palmoplantar pits, calcified…
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development.
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
The zebrafish ortholog of BCOR was cloned and found that knock-down of this ortholog caused developmental perturbations of the eye, skeleton and central nervous system consistent with the human syndromes, confirming that BCOR is a key transcriptional regulator during early embryogenesis.
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Constutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations, finding no significant difference in mutation status was found.
The calcifying odontogenic cyst--a possible analogue of the cutaneous calcifying epithelioma of Malherbe. An analysis of fifteen cases.
Nevoid Basal‐Cell Carcinoma Syndrome
- R. Gorlin
- MedicineDermatologic clinics
- 1 March 1987
Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome.
A thirty-one-year-old woman with basal-cell nevi, agenesis of the corpus callosum and dental cysts and skin lesions, appearing in childhood, is described.