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Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA. Hutchison DM, et al. J Eur Acad Dermatol Venereol. 2022 Apr;36(4):536-546. doi: 10.1111/jdv.17877. Epub 2021 Dec 31. J Eur Acad Dermatol Venereol. 2022. PMID: 34919300 Review.
Congenital disorders associated with lengthened eyelashes included Cantu syndrome, CHOPS syndrome, Coffin-Siris syndrome, congenital heart disease, Cornelia de Lange syndrome, Costello syndrome, familial trichomegaly, Floating Harbor syndrome …
Congenital disorders associated with lengthened eyelashes included Cantu syndrome, CHOPS syndrome, Coffin-Siris syndrome …
PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB. Liu J, et al. Ophthalmic Genet. 2023 Dec;44(6):530-538. doi: 10.1080/13816810.2023.2254830. Epub 2023 Nov 20. Ophthalmic Genet. 2023. PMID: 37732399 Review.
RESULTS: Biallelic pathogenic PNPLA6 variants cause five systemic neurological disorders: spastic paraplegia type 39, Gordon-Holmes, Boucher-Neuhauser, Laurence-Moon, and Oliver-McFarlane syndromes. PNPLA6 encodes NTE, an enzyme involved in maintaining phospholipid homeost …
RESULTS: Biallelic pathogenic PNPLA6 variants cause five systemic neurological disorders: spastic paraplegia type 39, Gordon-Holmes, Boucher …
Oliver McFarlane syndrome: two new cases and a review of the literature.
Lisbjerg K, Andersen MKG, Bertelsen M, Brost AG, Buchvald FF, Jensen RB, Bisgaard AM, Rosenberg T, Tümer Z, Kessel L. Lisbjerg K, et al. Ophthalmic Genet. 2021 Aug;42(4):464-473. doi: 10.1080/13816810.2021.1904419. Epub 2021 Apr 5. Ophthalmic Genet. 2021. PMID: 33818269 Review.
BACKGROUND: Oliver McFarlane syndrome is a rare syndrome. Clinical presentations include trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations. ...We found other 31 clinically documented published cases. …
BACKGROUND: Oliver McFarlane syndrome is a rare syndrome. Clinical presentations include trichomegaly, chorioret …
[Oliver-McFarlane syndrome].
Nakamura T, Endo F. Nakamura T, et al. Nihon Rinsho. 2006 Sep 28;Suppl 3:476-9. Nihon Rinsho. 2006. PMID: 17022591 Review. Japanese. No abstract available.