Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Categories of Cutaneous Mosaicism
View through CrossRef
ABSTRACTIn this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders. (3) Simple segmental versus superimposed mosaicism in autosomal dominant disorders. (4) Lethal mutations surviving in a mosaic; (5) Isolated segmental biallelic monoclonal mosaicism; (6) Autosomal recessive mosaicism; (7) Revertant mosaicism in autosomal dominant disorders; (8) Revertant mosaicism in autosomal recessive disorders; (9) Epigenetic mosaicism in X‐linked dominant, male‐lethal traits; (10) Epigenetic mosaicism in X‐linked, nonlethal traits; (11) Mosaicism in polygenic disorders; (12) Hypothetical epigenetic mosaicism in an autosomal dominant trait. Future research may show whether this classification is useful and complete.
Title: Categories of Cutaneous Mosaicism
Description:
ABSTRACTIn this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
(3) Simple segmental versus superimposed mosaicism in autosomal dominant disorders.
(4) Lethal mutations surviving in a mosaic; (5) Isolated segmental biallelic monoclonal mosaicism; (6) Autosomal recessive mosaicism; (7) Revertant mosaicism in autosomal dominant disorders; (8) Revertant mosaicism in autosomal recessive disorders; (9) Epigenetic mosaicism in X‐linked dominant, male‐lethal traits; (10) Epigenetic mosaicism in X‐linked, nonlethal traits; (11) Mosaicism in polygenic disorders; (12) Hypothetical epigenetic mosaicism in an autosomal dominant trait.
Future research may show whether this classification is useful and complete.
Related Results
Spectrum of cutaneous lupus erythematosus in South Africans with systemic lupus erythematosus
Spectrum of cutaneous lupus erythematosus in South Africans with systemic lupus erythematosus
Background Cutaneous involvement is very common in systemic lupus erythematosus. We describe the prevalence and spectrum of lupus-specific (cutaneous lupus erythematosus) and non-s...
A KRT6A Mutation p.Ile462Asn In A Chinese Family With Pachyonychia Congenita, And Identification of Maternal Mosaicism
A KRT6A Mutation p.Ile462Asn In A Chinese Family With Pachyonychia Congenita, And Identification of Maternal Mosaicism
Abstract
Background: Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutation...
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
Neurofibromatosis 2 (NF2) is a severe autosomal dominant disorder that predisposes to multiple tumours of the nervous system. About half of all patients are founders with clinicall...
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report
AbstractBackgroundPachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations inKRT6A,K...
Treatment of Patient with Cutaneous Lupus Erythematosus with Roflumilast Cream 0.3%
Treatment of Patient with Cutaneous Lupus Erythematosus with Roflumilast Cream 0.3%
Introduction: Cutaneous lupus erythematosus (CLE) is the cutaneous form of a common autoimmune disease, lupus erythematosus, driven by a dysfunction within the adaptive and innate ...
Cutaneous arteriolitis: A novel cutaneous small vessel vasculitis disorder clinicopathologically different from cutaneous polyarteritis nodosa and cutaneous venulitis
Cutaneous arteriolitis: A novel cutaneous small vessel vasculitis disorder clinicopathologically different from cutaneous polyarteritis nodosa and cutaneous venulitis
AbstractCutaneous vasculitis can be classified into two types based on the affected vessel size: small vessel vasculitis predominantly affecting dermal venules, and muscular vessel...
Clinical Classification of Mosaicism
Clinical Classification of Mosaicism
ABSTRACTThe term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi a...
P-735 Are there any differences in preimplantation blastocyst chromosomal abnormalities between polycystic ovary syndrome patients and controls? A multi-center retrospective cohort study
P-735 Are there any differences in preimplantation blastocyst chromosomal abnormalities between polycystic ovary syndrome patients and controls? A multi-center retrospective cohort study
Abstract
Study question
Are there possible differences in the preimplantation blastocyst chromosome aberrations between polycyst...