Katarzyna Szymanska,Verity L Hartill,Colin A Johnson
Katarzyna Szymanska
Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review we provide an overview of their ...
Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases [0.03%]
常染色体隐性遗传多囊肾病：肝肾纤维囊性疾病的原型
Lisa M Guay-Woodford
Lisa M Guay-Woodford
Autosomal recessive polycystic kidney disease (ARPKD) is a severe, typically early onset form of renal cystic disease. The care of ARPKD patients has traditionally been the purview of pediatric nephrologists for management of systemic hyper...
Dorus A Mans,Heleen H Arts
Dorus A Mans
Miriam Schmidts
Miriam Schmidts
Ciliary chondrodysplasias represent a heterogenous group of rare, nearly exclusively autosomal recessively inherited developmental conditions. While the skeletal phenotype, mainly affecting limbs, ribs and sometimes the craniofacial skeleto...
Merlin G Butler,Kelly M Usrey,Jennifer L Roberts et al.
Merlin G Butler et al.
We report a 32-month-old female of Peruvian ethnicity identified with a rare 20q13.2-q13.33 deletion using microarray analysis. She presented with intellectual disability, absent speech, hypotonia, pre- and post-natal growth retardation and...
Case Reports
Journal of pediatric genetics. 2013;2(3):157-161. DOI:10.3233/PGE-13065 2013
Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome [0.03%]
BP1-BP2微缺失（Burnside-Butler）综合征的进一步表型扩展
Adria M Jerkovich,Merlin G Butler
Adria M Jerkovich
We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a maternally inherited 15q11.2 microdeletion involving 4 genes, paternally inherited 13q12.2 microdeletion with 10 genes,...
Case Reports
Journal of pediatric genetics. 2014;3(1):41-44. DOI:10.3233/PGE-14082 2014
Common variants in the LAMA5 gene associate with fasting plasma glucose and serum triglyceride levels in a cohort of pre-and early pubertal children [0.03%]
LAMA5基因的常见变异与一组未成熟和早初潮儿童空腹血糖和血清甘油三酯水平相关性研究
Maria De Luca,Paula C Chandler-Laney,Howard Wiener et al.
Maria De Luca et al.
Laminins are large glycoproteins found in basement membranes where they play a vital role in tissue architecture and cell behavior. Previously, we reported the association of two LAMA5 polymorphisms (rs659822 and rs944895) with anthropometr...
Common variants in the LAMA5 gene associate with fasting plasma glucose and serum triglyceride levels in a cohort of pre-and early pubertal children [0.03%]
LAMA5基因的常见变异体与一组未成熟和早熟儿童空腹血糖及血清甘油三酯水平相关性研究
Maria De Luca,Paula C Chandler-Laney,Howard Wiener et al.
Maria De Luca et al.
Laminins are large glycoproteins found in basement membranes where they play a vital role in tissue architecture and cell behavior. Previously, we reported the association of two LAMA5 polymorphisms (rs659822 and rs944895) with anthropometr...