A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum [0.03%]
一处偶发Xp11.23重复导致的女孩严重表型病例报告：进一步扩展临床谱系
Pinar Arican,Dilek Cavusoglu,Pinar Gencpinar et al.
Pinar Arican et al.
The Xp11.22-p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with ep...
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand [0.03%]
泰国胆道闭锁婴儿肝外胆汁梗阻综合征变异系列研究（全外显子组测序发现的20例报告）
Surasak Sangkhathat,Wison Laochareonsuk,Wanwisa Maneechay et al.
Surasak Sangkhathat et al.
Biliary atresia (BA) is the most severe form of obstructive cholangiopathy occurring in infants. Definitive diagnosis of BA usually relies on operative findings together with supporting pathological patterns found in the extrahepatic bile d...
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families [0.03%]
巴基斯坦遗传性智力障碍家系的GPR56基因双侧额顶多小脑回症候群三突变分析
Humaira Aziz Sawal,Ricardo Harripaul,Anna Mikhailov et al.
Humaira Aziz Sawal et al.
Bilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to moderate-to-severe intellectual disability (ID), seizure disorder, and motor difficulties...
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update [0.03%]
印度患者的难治性佝偻病的遗传学：新发现的PHEX突变及文献更新
Binata Marik,Arvind Bagga,Aditi Sinha et al.
Binata Marik et al.
Refractory rickets is a genetic disorder that cannot be treated by vitamin D supplementation and adequate dietary calcium and phosphorus. Hereditary hypophosphatemic rickets is one of the major forms of refractory rickets in Indian children...
Reply to the Letter: "Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection" [0.03%]
对来信《听神经损伤与先天性巨细胞病毒感染》的答复
Paolo Fontana
Paolo Fontana
Beuy Joob,Viroj Wiwanitkit
Beuy Joob
NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy [0.03%]
NFU1相关性疾病作为囊性脑白质病鉴别诊断的重点
Paulo Victor Sgobbi de Souza,Thiago Bortholin,Stênio Burlin et al.
Paulo Victor Sgobbi de Souza et al.
Genetic leukoencephalopathies represent an expanding group of inherited disorders associated with involvement of brain white matter. Cystic degeneration has been previously described with some acquired or inherited leukoencephalopathies. We...
Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier [0.03%]
来自双平衡易位携带者的平衡型t(12;20)(q24.33;p12.2)和不平衡型der(13)t(7;13)(p21.3;q33.2)的遗传
Jess F Peterson,Gabrielle C Geddes,Donald G Basel et al.
Jess F Peterson et al.
We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 dupli...
Andrea Domenico Praticò,Raffaele Falsaperla,Renata Rizzo et al.
Andrea Domenico Praticò et al.
Speech delay, intellectual disability, and behavioral disturbances are the main clinical manifestations of Potocki-Lupski syndrome. Other features include infantile hypotonia, the absence of major dysmorphism, sleep disorders, and congenita...