Split hand/foot malformation associated with 20p12.1 deletion: A case report [0.03%]
20号染色体短臂末端缺失合并裂手裂足畸形症一例报告
Lyse Ruaud,Ricarda Flöttmann,Malte Spielmann et al.
Lyse Ruaud et al.
Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penet...
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features [0.03%]
GB2新发变异导致全球发育迟缓、智力障碍和特殊面容的全外显子组报告分析
Tokiko Fukuda,Takuya Hiraide,Kaori Yamoto et al.
Tokiko Fukuda et al.
Heterotrimeric G proteins are composed of α, β, and γ subunits and are involved in integrating signals between receptors and effector proteins. The 5 human Gβ proteins (encoded by GNB1, GNB2, GNB3, GNB4, and GNB5) are highly similar. Va...
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene [0.03%]
PLA2G6基因突变相关的新表型-婴儿期起病的进行性小脑萎缩和前角细胞变性
Michal Gafner,Marina Michelson,Keren Yosovich et al.
Michal Gafner et al.
Pontocerebellar hypoplasia (PCH) encompasses a group of neurodegenerative disorders. There are ten known subtypes with common characteristics of pontine and cerebellar hypoplasia or atrophy, neocortical atrophy, and microcephaly. PCH is ass...
Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature [0.03%]
PAK3相关X-连锁智力障碍表型的进一步界定：一种新型错义突变的识别及文献综述
Dóra Nagy,Katalin Farkas,Lluís Armengol et al.
Dóra Nagy et al.
Identification of novel microsatellite markers flanking GJB2 gene in order to use in preimplantation genetic diagnosis of hearing loss: A comparison of whole-genome amplification and semi-nested PCR [0.03%]
用于胚胎植入前遗传诊断的GJB2基因新型微卫星标记物鉴定：全基因组扩增和半嵌套PCR的比较研究
Zahra Tabatabaei,Mohammad Ali Farazi Fard,Seyed Basir Hashemi et al.
Zahra Tabatabaei et al.
Hearing loss is the most prevalent sensorineural disorder which can be caused by genetic factors in more than half of the cases. GJB2 mutations with the frequency of 18.7% are the most common cause of autosomal recessive non-syndromic heari...
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities [0.03%]
新型ATP6V1B2突变与常染色体显性遗传性癫痫、智力障碍和轻微牙龈及指甲异常相关研究报告
Marie Shaw,Anna Winczewska-Wiktor,Magdalena Badura-Stronka et al.
Marie Shaw et al.
Mutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. Recently epilepsy has also been described ...
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability [0.03%]
DSE相关的肌收编型EDS，是一组较轻的表型还是表现度变异？
Schaida Schirwani,Kay Metcalfe,Bart Wagner et al.
Schaida Schirwani et al.
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive condition characterized by distinct craniofacial features, multisystem congenital malformations and progressive fragility of connective tissues. It is caused by pa...
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease [0.03%]
5q34-q35.2缺失综合征合并左心室非 compaction 及先天性心脏病一例
Priyanka Arya,Theodore E Wilson,John J Parent et al.
Priyanka Arya et al.
Terminal and interstitial deletions of the 5q35 region have been rarely reported in the literature. While a delineated phenotype has been suggested, the range of clinical presentations is unknown due to overall rarity. Cardiac features are ...
Raashda A Sulaiman,Mohammed Al-Owain
Raashda A Sulaiman
The incidence of inherited metabolic disorders (IMD) in Saudi Arabia is one of the highest in the world. Early diagnosis and advances in the treatment of these diseases have led to improved survival of these patients resulting in a rapidly ...
A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia [0.03%]
FGFR1外显子新生移码突变导致蛋白质延长与多发骨骺发育不良及低促性腺素性性腺功能减退综合征（无嗅觉缺失）的关系研究
Marjolaine Champagne,Patricia Olivier,Peter Glavas et al.
Marjolaine Champagne et al.
Multiple epiphyseal dysplasia (MED) is a genetically and clinically heterogeneous disease with both dominant and recessive inheritance. Eight different genes are known to cause the disease but in 15% of cases of MED, no mutation is found. F...