Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder inherited in an autosomal recessive fashion.[1][2] It is characterized by abnormalities in the larynx, nails ("onycho-"), and skin ("cutaneous").[3] The disorder is only found in Punjabi Muslims and only a few cases have been reported.[4]
Laryngoonychocutaneous syndrome
This condition is inherited in an autosomal recessive manner.
^McLean, W. H. I. (2003-07-15). "An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Human Molecular Genetics. 12 (18): 2395–2409. doi:10.1093/hmg/ddg234. ISSN 1460-2083. PMID 12915477.
^Journal of Pakistan Association of Dermatologists 2010; 20: 125-127.
^Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.
laryngo, onycho, cutaneous, syndrome, also, known, shabbir, syndrome, rare, epithelial, disorder, inherited, autosomal, recessive, fashion, characterized, abnormalities, larynx, nails, onycho, skin, cutaneous, disorder, only, found, punjabi, muslims, only, cas. Laryngo onycho cutaneous syndrome also known as Shabbir syndrome is a rare epithelial disorder inherited in an autosomal recessive fashion 1 2 It is characterized by abnormalities in the larynx nails onycho and skin cutaneous 3 The disorder is only found in Punjabi Muslims and only a few cases have been reported 4 Laryngoonychocutaneous syndromeThis condition is inherited in an autosomal recessive manner SpecialtyDermatology It was characterized by Pakistani dermatologist Syed Ghulam Shabbir 1923 2002 5 in 1986 6 7 It may be associated with LAMA3 8 See also editWatson syndrome List of cutaneous conditionsReferences edit Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby p 712 ISBN 978 1 4160 2999 1 Bardhan Ajoy Bruckner Tuderman Leena Chapple Iain L C Fine Jo David Harper Natasha Has Cristina Magin Thomas M Marinkovich M Peter Marshall John F McGrath John A Mellerio Jemima E 2020 09 24 Epidermolysis bullosa Nature Reviews Disease Primers 6 1 78 doi 10 1038 s41572 020 0210 0 ISSN 2056 676X PMID 32973163 S2CID 221861310 Laryngo onycho cutaneous syndrome MedlinePlus Genetics medlineplus gov Retrieved 2020 11 01 McLean W H I 2003 07 15 An unusual N terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo onycho cutaneous syndrome Human Molecular Genetics 12 18 2395 2409 doi 10 1093 hmg ddg234 ISSN 1460 2083 PMID 12915477 Journal of Pakistan Association of Dermatologists 2010 20 125 127 Shabbir G Hassan M Kazmi A Laryngo onycho cutaneous syndrome a study of 22 cases Biomedica 2 15 25 1986 Online Mendelian Inheritance in Man OMIM 245660 McLean WH Irvine AD Hamill KJ et al September 2003 An unusual N terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo onycho cutaneous syndrome Hum Mol Genet 12 18 2395 409 doi 10 1093 hmg ddg234 PMID 12915477 External links editLaryngo onycho cutaneous syndrome on MedlinePlus This Genodermatoses article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Laryngo onycho cutaneous syndrome amp oldid 1222623212, wikipedia, wiki, book, books, library,
