c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient

by Tanpaiboon,P., Kantaputra,P.N.I., Wejathikul,K., Piyamongkol,W.
Published 2015

Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7

by Kantaputra,P.N.I., Thawanaphong,S., Issarangporn,W., Klangsinsirikul,P., Ohazama,A., Sharpe,P.T., Supanchart,C.
Published 2015

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation

by Kantaputra,P.N.I., Kaewgahya,M., Wiwatwongwana,A., Wiwatwongwana,D., Sittiwangkul,R., Iamaroon,A., Dejkhamron,P.
Published 2015

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation

by Kantaputra,P.N.I., Kaewgahya,M., Wiwatwongwana,A., Wiwatwongwana,D., Sittiwangkul,R., Iamaroon,A., Dejkhamron,P.
Published 2015