Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome [0.03%]
患有科芬-席尔斯综合症的双胎妊娠单绒毛膜双羊膜囊胎儿表型差异分析
Brett LaBrecque,Marioxy Contreras,Jessica Giordano et al.
Brett LaBrecque et al.
The first known documented case of monochorionic-diamniotic twins with Coffin-Siris syndrome is described in this study. This case is notable because of the phenotypic differences between infants despite having identical genomes and causati...
A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report [0.03%]
与亨特综合征相关的新发框移突变的个例报告
Mana Kamranjam,Seyedeh Maryam Hosseini,Mohammadreza Alaei
Mana Kamranjam
Mucopolysaccharidosis 1 (MPS1) is a rare inherited lysosomal storage disorder resulting from the absence or reduction of lysosomal alpha-l-iduronidase due to mutations in the IDUA gene. Three major clinical manifestations have been establis...
Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome-Literature Review [0.03%]
脑白质病变和畸形：提示6p25缺失综合征的体征-文献综述
Piero Pavone,Simona Domenica Marino,Giovanni Corsello et al.
Piero Pavone et al.
Deletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, ca...
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study [0.03%]
黏脂贮积病Ⅱ型和Ⅲ型的临床特征分析：一项多中心研究
Taciane Alegra,Fernanda Sperb-Ludwig,Nicole Ruas Guarany et al.
Taciane Alegra et al.
Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Tw...
Genetic Landscape of Mitochondrial Regulatory Region in Pediatric Acute Myeloid Leukemia: Changes from Diagnosis to Relapse [0.03%]
儿童急性髓系白血病诊断至复发阶段线粒体调控区域的基因图谱变迁
Anudishi Tyagi,Raja Pramanik,Radhika Bakhshi et al.
Anudishi Tyagi et al.
This prospective study aimed to compare the pattern of mitochondrial deoxyribonucleic acid D-loop (mt-DNA D-loop) variations in 41 paired samples of de novo pediatric acute myeloid leukemia (AML) (baseline vs. relapse) patients by Sanger's ...
Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome [0.03%]
两种GATA1新突变与泰国唐氏综合征新生儿一过性异常髓样增生的关系
Kanokporn Chukua,Chayanont Netsawang,Kittipoom Padungthai et al.
Kanokporn Chukua et al.
Children with Down syndrome (DS) are 150 times more likely to develop acute myeloid leukemia (ML-DS), compared with those without. One risk factor is transient abnormal myelopoiesis (TAM). Somatic truncating GATA1 mutations are found in mos...
Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients [0.03%]
埃及患者的普拉德-威利综合征的早期诊断与治疗
Hala T El-Bassyouni,Nagwa Hassan,Inas Mahfouz et al.
Hala T El-Bassyouni et al.
Prader-Willi syndrome (PWS) is a distinct neurodevelopmental disorder associated with the deletion within the chromosomal 15q11-q13 region or uniparental disomy of chromosome 15. The etiologic heterogeneity of PWS makes it very difficult to...
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency [0.03%]
关于线粒体PET100基因的两个Lebanese突变导致细胞色素c氧化酶缺乏症的家系报告
Hicham Mansour,Sandra Sabbagh,Sami Bizzari et al.
Hicham Mansour et al.
Cytochrome c oxidase deficiency is caused by mutations in any of at least 30 mitochondrial and nuclear genes involved in mitochondrial complex IV biogenesis and structure, including the recently identified PET100 gene. Here, we report two f...
A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases [0.03%]
一名6岁男孩DHCR7基因新型无义突变及PROC罕见同型错义突变双基因遗传病患儿1例报告
Evren Gumus
Evren Gumus
In the present case report, we described a 6-year-old-boy with developmental delay, mental retardation, lack of speech, skin scars, and 2 to 3 toe syndactyly from healthy consanguineous Turkish parents. The whole exome sequencing (WES) anal...
Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome [0.03%]
罗特姆-汤普森综合征印度患者的两个新型突变的报告
Sakshi Yadav,Seema Thakur,Juergen Kohlhase et al.
Sakshi Yadav et al.
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations in RECQL4 and has characteristic clinical features. We report two unrelated phenotypically diverse patients (cases 1 and 2) with RTS having novel var...