Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa [0.03%]
狼-希里歇恩综合征：中非首例患者临床及遗传数据
Sébastien Mbuyi-Musanzayi,Aimé Lumaka,Toni Lubala Kasole et al.
Sébastien Mbuyi-Musanzayi et al.
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa....
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? [0.03%]
先天性巨细胞病毒感染患者的感音神经性听力损失：识别合并症是否有用？
P Fontana,D Melis,A D&#x;Amico et al.
P Fontana et al.
Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can...
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene [0.03%]
IHH基因c.298G>A突变患儿的严重型并指症1型表型
Smrithi Salian,Anju Shukla,Gen Nishimura et al.
Smrithi Salian et al.
Brachydactyly type A1 (BDA1) is characterized by short middle phalanges. We report the case of a child with a severe form of BDA1 with complete absence of the middle phalanges of all extremities. He had c.298G > A (p.D100N) mutation in IHH ...
First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X [0.03%]
一家庭中两种罕见染色体异常的首报：49,XXXXY和45,X各1例
Yavuz Şahin,Aysegül Özcan
Yavuz Şahin
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic d...
Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy [0.03%]
经典膀胱外翻患者中LF-SINE衍生的远端ISL1增强子的作用
Rong Zhang,Michael Knapp,Franziska Kause et al.
Rong Zhang et al.
A genome-wide association study and meta-analysis identified ISL1 as the first genome-wide significant susceptibility gene for classic bladder exstrophy (CBE). A short interspersed repetitive element (SINE), first detected in lobe-finned fi...
Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy [0.03%]
一条新的不均衡插入染色体导致的17号染色体短臂部分三体综合征病例报告
Luis Alberto Mendez-Rosado,Araceli Lantigua,Juan Galarza et al.
Luis Alberto Mendez-Rosado et al.
Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and develop...
RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome [0.03%]
Potocki-Lupski综合征中RAI1过表达导致节律基因表达异常和睡眠障碍
Sureni V Mullegama,Joseph T Alaimo,Michael D Fountain et al.
Sureni V Mullegama et al.
Retinoic acid induced 1 ( RAI1 ) encodes a dosage-sensitive gene that when haploinsufficient results in Smith-Magenis syndrome (SMS) and when overexpressed results in Potocki-Lupski syndrome (PTLS). Phenotypic and molecular evidence illustr...
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I [0.03%]
印度戊二酸尿症Ⅰ型患者谷氨酰基辅酶A脱氢酶基因致病突变的筛选及遗传学分析
Kruthika-Vinod Tp,Shaik Muntaj,K S Devaraju et al.
Kruthika-Vinod Tp et al.
Glutaric aciduria type I (GA-I) is an organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. There are limited studies on GA-I from India. A total of 48 Indian GA-I patients were screened for selected disease-causing mutat...
Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements [0.03%]
MEF2C低表现量综合症的进一步临床特征描述：新病例及以癫痫、无语言能力、不自主运动为表型的严重神经发育障碍疾病的文献回顾
Irena Vrečar,Josie Innes,Elizabeth A Jones et al.
Irena Vrečar et al.
Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenot...
Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child [0.03%]
印度1例进行性家族遗传性肝内胆汁淤积症二期患者报告
Ira Shah,Sujeet Chilkar
Ira Shah
Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs du...