Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome? [0.03%]
先天性无痛无汗症有可能被误诊为帕波利翁-勒夫vre综合症吗？
Mostafa Ibrahim Mostafa,Maha Rashed Abouzaid,Manal Micheal Thomas et al.
Mostafa Ibrahim Mostafa et al.
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain...
Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome [0.03%]
NSD1和NFIX突变在具有Sotos综合征和Malan综合征临床特征的三例患者中的研究
Yongping Lu,Pin Fee Chong,Ryutaro Kira et al.
Yongping Lu et al.
Mutations in nuclear receptor SET domain-containing protein 1 gene ( NSD1 ) are related to Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive features, and neurodevelopmental disabilities. On the other hand, mut...
Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review [0.03%]
染色体19p13.3区域重复导致的畸形及智力障碍病例报告及文献复习
Irina Novikova,Paushpala Sen,Ann Manzardo et al.
Irina Novikova et al.
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the liter...
Determining Nt-proBNP Levels with Diastolic Dysfunction in Thalassemia Major Patients [0.03%]
血红蛋白病患者舒张功能不全与N端前脑钠肽水平测定的关系研究
Mable Misha Singh,Ravindra Kumar,Satyendra Tewari et al.
Mable Misha Singh et al.
Beta thalassemia is an autosomal, recessive disorder, characterized by ineffective erythropoiesis. Chronic transfusions and inability of body to eliminate iron lead to an iron overload, thereby causing damage to heart. Natriuretic peptides ...
Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature [0.03%]
染色体微缺失和重复的特征分析：15q26微缺失和2q37.1重复的产前诊断及文献复习——一例合并多囊肾的新病例报告
Molka Kammoun,Wafa Slimani,Hanene Hannachi et al.
Molka Kammoun et al.
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfe...
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma [0.03%]
原发性先天性青光眼患者CYP1B1基因突变分析
Leila Chouiter,Sellama Nadifi
Leila Chouiter
Primary congenital glaucoma (PCG) is the most common type of infantile glaucoma, yet it remains a relatively rare disease, because the disease is often transmitted in an autosomal recessive pattern. However, PCG occurs up to 10 times more f...
Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia [0.03%]
沙特阿拉伯卫生专业人员和医学生对产前检查和人工流产的态度
Nagwa E A Gaboon,Khadijah H Bakur,Alaa Y Edrees et al.
Nagwa E A Gaboon et al.
This study was aimed at assessing the attitude of health care professionals in Jeddah city toward prenatal diagnosis (PND) and termination of pregnancy (TOP). A cross-sectional study was conducted, and the participants completed a self-admi...
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation [0.03%]
MED12基因突变所致家族性X连锁奥多综合征-莫特-凯维特-布鲁纳型的临床异质性
Siddaramappa J Patil,Puneeth H Somashekar,Anju Shukla et al.
Siddaramappa J Patil et al.
Ohdo syndrome-Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 ( MED12 ) gene. Here we report a famili...
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation [0.03%]
HOXD13基因突变胎儿并指畸形和脐膨出现象
Periyasamy Radhakrishnan,Shalini S Nayak,Muralidhar V Pai et al.
Periyasamy Radhakrishnan et al.
Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13 . It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and/or fourth toe (T...
Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3 [0.03%]
PGAP3新突变导致的高磷酸酶血症伴智力障碍综合征
Sheela Nampoothiri,Malavika Hebbar,Arun Grace Roy et al.
Sheela Nampoothiri et al.
Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, ...