Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.
Parvari R, Hershkovitz E, Kanis A, Gorodischer R, Shalitin S, Sheffield VC, Carmi R.
Am J Hum Genet. 1998 Jul;63(1):163-9. doi: 10.1086/301915.
Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome.
Davies GE, Howard CM, Gorman LM, Farrer MJ, Holland AJ, Williamson R, Kessling AM.
Hum Genet. 1993 Jan;90(5):521-5. doi: 10.1007/BF00217452.
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.
Kerstann KF, Feingold E, Freeman SB, Bean LJ, Pyatt R, Tinker S, Jewel AH, Capone G, Sherman SL.
Genet Epidemiol. 2004 Nov;27(3):240-51. doi: 10.1002/gepi.20019.
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L.
Eur J Hum Genet. 1999 Jul;7(5):560-6. doi: 10.1038/sj.ejhg.5200319.
The genetic landscape of familial congenital hydrocephalus.
Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, Hopkin RJ, Dupuis L, Mendoza-Londono R, Al Rukban H, Yoon G, Faqeih E, Alkuraya FS.
Ann Neurol. 2017 Jun;81(6):890-897. doi: 10.1002/ana.24964.
Characteristics and management of superior semicircular canal dehiscence.
Yew A, Zarinkhou G, Spasic M, Trang A, Gopen Q, Yang I.
J Neurol Surg B Skull Base. 2012 Dec;73(6):365-70. doi: 10.1055/s-0032-1324397. Epub 2012 Aug 8.
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P.
Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713.
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.
Locke AE, Dooley KJ, Tinker SW, Cheong SY, Feingold E, Allen EG, Freeman SB, Torfs CP, Cua CL, Epstein MP, Wu MC, Lin X, Capone G, Sherman SL, Bean LJ.
Genet Epidemiol. 2010 Sep;34(6):613-23. doi: 10.1002/gepi.20518.
Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.
Grigorenko AP, Protasova MS, Lisenkova AA, Reshetov DA, Andreeva TV, Garcias GL, Martino Roth MDG, Papassotiropoulos A, Rogaev EI.
Cells. 2022 Jan 25;11(3):400. doi: 10.3390/cells11030400.
Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: A Case Report.
Hochman L, Drummond A, Morgan K.
Cureus. 2025 Jan 27;17(1):e78066. doi: 10.7759/cureus.78066. eCollection 2025 Jan.
