Tamara Paff,Johannes M A Daniels,Gerard Pals et al.
Tamara Paff et al.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder affecting motile cilia. This can lead to neonatal respiratory distress, early onset upper and lower airway infections, laterality abnormalities and sub- or infertility....
Shalabh Srivastava,John A Sayer
Shalabh Srivastava
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and histo...
Tamar I de Vries,Mieke M van Haelst
Tamar I de Vries
Obesity is an increasing global health problem. Although it is mainly thought to be due to the changing obesogenic environment, the genetic contribution has been estimated between 40-70%. A number of genes have been identified that cause ob...
The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene [0.03%]
osteogenesis imperfecta type V反复出现的致病突变位于IFITM5基因内的一个高度甲基化 CpG 碱基对内
Massimiliano Corradi,Elena Monti,Giacomo Venturi et al.
Massimiliano Corradi et al.
Recent studies have identified the molecular defect underlying autosomal dominant osteogenesis imperfecta (OI) type V. Unlike all other OI types, which are characterized by high genetic heterogeneity, OI type V appears consistently associat...
Case Reports
Journal of pediatric genetics. 2014 Mar;3(1):35-9. DOI:10.3233/PGE-14079 2014
Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss [0.03%]
PPIB突变引起的严重型成骨不全伴先天性耳聋
Eric T Rush,Kathleen S Caldwell,Rose M Kreikemeier et al.
Eric T Rush et al.
Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue typically caused by defects in either COL1A1 or COL1A2. A number of other genes causative of this disorder have been found, including PPIB, which forms one subunit o...
Vanêssa Gomes Fraga,Karina Braga Gomes
Vanêssa Gomes Fraga
The current childhood obesity epidemic represents a particular challenge for public health. Understanding of the etiological mechanisms of obesity remains integral in treating this complex disorder. In recent years, studies have elucidated ...
Retrotransposons and pediatric genetic disorders: Importance and implications [0.03%]
逆转座子与儿科遗传病：重要性及影响
Seyed Mohammad Akrami,Laleh Habibi
Seyed Mohammad Akrami
Pediatric disorders are generally observed to have a greater genetic load than diseases occurring during adulthood. Clinical manifestations of many genetic defects including chromosomal abnormalities and mutations in specific genes appear d...
Precision in chromosome identification with leads in molecular cytogenetics: An illustrated review [0.03%]
染色体识别的精确性与分子细胞遗传学的新进展：图文综述
Usha R Dutta
Usha R Dutta
Chromosomal aberrations are a major cause of human genetic diseases. Conventional cytogenetic banding techniques are the method of identification for both numerical and structural chromosomal abnormalities but with limited resolution. Howev...
Zellweger syndrome: an older child with progressive foot deformity [0.03%]
齐尔 Wenger 综合征：进行性足畸形患者的诊断及治疗
David Westberry,Linda Pugh
David Westberry
Zellweger spectrum disorders result from defects in the assembly of the peroxisome and are sometimes referred to as peroxisome biogenesis disorders. Orthopedic manifestations of this condition are variable. This case report illustrates an a...
Achandira M Udayakumar,Adila Al-Kindy
Achandira M Udayakumar
Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this lo...