New AP4B1 mutation in an African-American child associated with intellectual disability [0.03%]
新的AP4B1突变与智力障碍相关
Dronacharya Lamichhane Md
Dronacharya Lamichhane Md
Prevalence of intellectual disability (ID) varies from 1-3%. Genetic causes of ID are being increasingly recognized. Although multiple mutations have been identified as a cause of syndromic ID, the genetic etiology of non-syndromic ID is po...
ACVRL1 gene variant in a patient with vein of Galen aneurysmal malformation [0.03%]
血管架瘤样病变患者的ACVRL1基因变异
Ayako Chida,Masaki Shintani,Hajime Wakamatsu et al.
Ayako Chida et al.
Although mutations in the RASA1 gene in vein of Galen aneurysmal malformation (VGAM) and an endoglin gene mutation in a VGAM patient with a family history of hereditary hemorrhagic telangiectasia (HHT) have been identified, most VGAM cases ...
Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases [0.03%]
米索前列醇致胎儿畸形临床表型研究——38例分析
Siulan Vendramini-Pittoli,Maria L Guion-Almeida,Antonio Richieri-Costa et al.
Siulan Vendramini-Pittoli et al.
The authors describe the clinical findings of 38 children with congenital anomalies and misoprostol intrauterine exposure. This study included 38 cases, ascertained from case series of the Hospital of Rehabilitation of Craniofacial Anomalie...
Sheila Castro-Sánchez,María Álvarez-Satta,Diana Valverde
Sheila Castro-Sánchez
Published Erratum
Journal of pediatric genetics. 2013 Sep;2(3):171. DOI:10.3233/PGE-13057 2013
Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p [0.03%]
由于父亲的平衡易位导致的5p缺失综合征伴8q和12p拷贝数变异的表型异质性研究
Pankaj Sharma,Neerja Gupta,Madhumita R Chowdhury et al.
Pankaj Sharma et al.
5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases. Clinical features include developmental delay, microcephaly, subtle facial dysmorph...
Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients [0.03%]
三例不同患者的染色体13微环的分子细胞遗传学和表型研究
Inesse B Abdallah-Bouhjar,Soumaya Mougou-Zerelli,Hanene Hannachi et al.
Inesse B Abdallah-Bouhjar et al.
We report on the cytogenetic and molecular investigations of constitutional de-novo ring chromosome 13s in three unrelated patients for better understanding and delineation of the phenotypic variability characterizing this genomic rearrange...
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome [0.03%]
新发嵌合体的罕见案例：18p缺失和等臂染色体18q综合征
Achandira M Udayakumar,Adila Al-Kindy
Achandira M Udayakumar
Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic finding...
Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene [0.03%]
Dent病：CLCN5基因七种新的致病突变的鉴定
Elena Ramos-Trujillo,Felix Claverie-Martin,Victor Garcia-Nieto et al.
Elena Ramos-Trujillo et al.
Dent's disease is an X-linked proximal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This disorder is frequently caused by mutations in the CL...
CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis [0.03%]
CTNS基因分析强调了眼科检查在胱氨酸贮积症患者中的诊断价值
Miguel A Alcántara-Ortigoza,Astrid B Martínez-Bernal,Leticia Belmont-Martínez et al.
Miguel A Alcántara-Ortigoza et al.
Classic nephropathic cystinosis (CNC) is an autosomal recessive and infrequent inborn metabolic disease that should be suspected in all children who show failure to thrive and renal Fanconi syndrome (RFS). Slit-lamp examination reveals path...
IGF1R mutation analysis in short children with Silver-Russell syndrome features [0.03%]
具有Silver-Russell综合征特征的矮小儿童中的IGF1R基因突变分析
Lukas Soellner,Sabrina Spengler,Matthias Begemann et al.
Lukas Soellner et al.
The insulin-like growth factor 1 receptor (IGF1R) is a key factor in intrauterine and postnatal growth by mediating the biological function of IGF-I. Mutations of IGF1R gene are usually associated with growth retardation, but the clinical p...