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MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
Eur J Hum Genet. 2006 May;14(5):543-8. doi: 10.1038/sj.ejhg.5201577.
Eur J Hum Genet. 2006.
PMID: 16493448
A consanguineous pedigree is described where 14 individuals are affected with a novel autosomal recessive disorder, which causes static moderate mental retardation, truncal obesity, a congenital nonprogressive retinal dystrophy and micropenis in males. We have tentatively named t …
A consanguineous pedigree is described where 14 individuals are affected with a novel autosomal recessive disorder, which causes static mode …
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, Crosby AH, Baple EL, Gul A.
Khan S, et al.
Ann Hum Genet. 2019 Nov;83(6):477-482. doi: 10.1111/ahg.12336. Epub 2019 Jun 7.
Ann Hum Genet. 2019.
PMID: 31173343
(Arg66Glufs*12); family 1) in BBS5, and a nonsense mutation (NM_019892.5:c.1879C>T; p.Gln627*; family 2) in INPP5E, previously reported in an extended Pakistani family with MORM syndrome. Our findings expand the molecular spectrum associated with BBS5 mutations i …
(Arg66Glufs*12); family 1) in BBS5, and a nonsense mutation (NM_019892.5:c.1879C>T; p.Gln627*; family 2) in INPP5E, previously reported i …
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Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
de Goede C, Yue WW, Yan G, Ariyaratnam S, Chandler KE, Downes L, Khan N, Mohan M, Lowe M, Banka S.
de Goede C, et al.
Eur J Paediatr Neurol. 2016 Mar;20(2):286-295. doi: 10.1016/j.ejpn.2015.11.012. Epub 2015 Dec 18.
Eur J Paediatr Neurol. 2016.
PMID: 26748598
Review.
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Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
Drole Torkar A, Avbelj Stefanija M, Bertok S, Trebušak Podkrajšek K, Debeljak M, Stirn Kranjc B, Battelino T, Kotnik P.
Drole Torkar A, et al.
Front Endocrinol (Lausanne). 2021 Jun 15;12:581134. doi: 10.3389/fendo.2021.581134. eCollection 2021.
Front Endocrinol (Lausanne). 2021.
PMID: 34211432
Free PMC article.
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