Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

Autor: Robert M.W. de Waal, Ben C.J. Hamel, Kaate R.J. Vanmolkot, Hans van Bokhoven, David J. Atherton, Volker Doetsch, W Andrew D Griffiths, John A. McGrath, Pascal H.G. Duijf, Annie Yang, Han G. Brunner, Arie van Haeringen, Seth J. Orlow, Frank McKeon, Alexander E. Kelly, Margreet G. E. M. Ausems, V Wessagowit, Alan D. Irvine, Michael A. Bamshad

Publikováno v: Human Molecular Genetics, 10, 221--9
Scopus-Elsevier
Human Molecular Genetics, 10(3), 221-229. Oxford University Press
Human Molecular Genetics, 10, 3, pp. 221--9

Item does not contain fulltext Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d19fcd157d9c29787edd7c79c0d3be
https://doi.org/10.1093/hmg/10.3.221

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

Autor: Frances J.D. Smith, G. H. S. Ashton, John A. McGrath, Hong Wan, R. Mallipeddi, Robin A.J. Eady, Patricia J.C. Dopping-Hepenstal, W Andrew D Griffiths, W.H. Irwin McLean, Neil V. Whittock

Publikováno v: The Journal of investigative dermatology. 118(5)

The striate form of palmoplantar keratoderma is a rare autosomal dominant disorder affecting palm and sole skin. Genetic heterogeneity of striate palmoplantar keratoderma has been demonstrated with pathogenic mutations in the desmosomal proteins desm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3070dad2a1f5deee01b8b05ac54d4e4e
https://pubmed.ncbi.nlm.nih.gov/11982762

An improved method of studying fingernail morphometry: application to the early detection of fingernail clubbing

Autor: Supriya Goyal, Salim Omarouayache, Rafik Mohammedi, W Andrew D Griffiths

Publikováno v: Journal of the American Academy of Dermatology. 39(4 Pt 1)

The detection of clubbing of the fingernails by inspection has been used since it was first described by Hippocrates as a sign of empyema. Although interest in clubbing has remained constant, its study is largely subjective.1,2 Clubbing is found in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b41e9a177b36bf0a30bee0ab32e830
https://pubmed.ncbi.nlm.nih.gov/9777775

Linear and whorled nevoid hypermelanosis

Autor: David J. Atherton, W Andrew D Griffiths, D. Chester Kalter

Publikováno v: Journal of the American Academy of Dermatology. 19(6)

Two cases are presented of congenital linear and whorled hypermelanosis. Hyperpigmented macules in streaky configurations along Blaschko's lines appeared gradually after birth. Histologic examination revealed prominent epidermal melanocytes and irreg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b99ecf782b859da5135c8401a24c569b
https://pubmed.ncbi.nlm.nih.gov/3204178