Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D

Bird-headed dwarf of Seckel.

J Indian Soc Pedod Prev Dent 25 Suppl:S8-9 (2007)

Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, van de Harten JJ, Niermeijer MF

Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.

Am J Med Genet 27:183-8 (1987)
DOI:10.1002/ajmg.1320270119

O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

Nat Genet 33:497-501 (2003)
DOI:10.1038/ng1129

Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Borglum AD

CtIP Mutations Cause Seckel and Jawad Syndromes.

PLoS Genet 7:e1002310 (2011)
DOI:10.1371/journal.pgen.1002310

Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS

Novel CENPJ mutation causes Seckel syndrome.

J Med Genet 47:411-4 (2010)
DOI:10.1136/jmg.2009.076646

Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tuysuz B, Nurnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nurnberg P, Karaguzel A, Wollnik B

CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

Nat Genet 43:23-6 (2011)
DOI:10.1038/ng.725

Sir JH, Barr AR, Nicholas AK, Carvalho OP, Khurshid M, Sossick A, Reichelt S, D'Santos C, Woods CG, Gergely F

A primary microcephaly protein complex forms a ring around parental centrioles.

Nat Genet 43:1147-53 (2011)
DOI:10.1038/ng.971

Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

J Clin Endocrinol Metab 97:E2140-51 (2012)
DOI:10.1210/jc.2012-2150

Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS

Genomic analysis of primordial dwarfism reveals novel disease genes.

Genome Res 24:291-9 (2014)
DOI:10.1101/gr.160572.113

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Nat Genet 48:36-43 (2016)
DOI:10.1038/ng.3451

Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

J Clin Invest 124:4028-38 (2014)
DOI:10.1172/JCI73264

Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, Chen L, Chang G, Tang J, Yao R, Yu T, Wang X, Fu W, Fu Q, Shen Y, Alkuraya FS, Machol K, Wang J

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature,  craniofacial and digital abnormalities.

EBioMedicine 99:104940 (2024)
DOI:10.1016/j.ebiom.2023.104940