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Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndromeKANTAPUTRA, Piranit N; TANPAIBOON, Pranoot; UNACHAK, Kevalee et al.American journal of medical genetics. 2004, Vol 130A, Num 2, pp 181-190, issn 0148-7299, 10 p.Article

Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex : Association with an 1 soil. 3 deletionKANTAPUTRA, Piranit N; LIMWONGSE, Chanin; TOCHAREONTANAPHOL, Chintana et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 23, pp 2598-2602, issn 1552-4825, 5 p.Conference Paper

Tetralogy of fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 → 9pter and deletion of 9q34.3TANSATIT, Montakarn; KONGRUTTANACHOK, Narisorn; KONGNAK, Walaiwan et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 18, pp 1981-1987, issn 1552-4825, 7 p.Article

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlationDE BAERE, Elfride; DIXON, Michael J; COURTENS, Winnie et al.Human molecular genetics (Print). 2001, Vol 10, Num 15, pp 1591-1600, issn 0964-6906Article

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2qKANTAPUTRA, Piranit N; MOPOCKI, Eva; HENNIG, Bianca P et al.European journal of human genetics. 2010, Vol 18, Num 12, pp 1310-1314, issn 1018-4813, 5 p.Article

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