A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder [0.03%]
FRMPD4内含子新型变异导致剪接异常：一种X连锁神经发育障碍的病例报告
Tomoko Satake,Yasuhiro Kawai,Koki Nagai et al.
Tomoko Satake et al.
FRMPD4, a gene on the X-chromosome, encodes a neuronal scaffold protein, and six variants in this gene have been associated with X-linked neurodevelopmental disorder. We identified a novel intronic hemizygous variant (NM_014728.3:c.1198-6C>...
Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2 [0.03%]
ASCC1基因变异更新：首个纯合错义突变导致先天性骨骨折型胎儿起病脊髓性肌萎缩的特征分析
A Civit,L Kerbellec,D Laurenceau et al.
A Civit et al.
Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal h...
An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature [0.03%]
史密斯-金斯莫尔综合征的最新研究：发育里程碑特征及文献回顾
Carolyn R Raski,Carlos E Prada
Carolyn R Raski
Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep-wake abnormalities, hyperphagia, and overgrowth. SKS is c...
Malignant Phyllodes Tumor of the Breast in a Young Adult With Neurofibromatosis Type 1 [0.03%]
1型神经纤维瘤病青年女性乳腺恶性叶状肿瘤病例报告
Akihisa Okumura,Kimihito Fujii,Hirokazu Kurahashi et al.
Akihisa Okumura et al.
Neurofibromatosis 1 (NF1) is caused by pathogenic variants of the NF1 gene and increases the risk of tumor development. Phyllodes tumors are rare fibroepithelial neoplasms of the breast, for which the malignant forms exhibit high recurrence...
Feeding, Nutrition, and Physical Activity From the Perspectives of People With Skeletal Dysplasia in Australia and Norway: A Mixed Qualitative Methods Study [0.03%]
澳大利亚和挪威软骨发育不全患者的饮食、营养和身体活动状况：一种混合质性研究方法
Natassja Billich,Johanne Kjellevik Ledang,Anne-Mette Bredahl et al.
Natassja Billich et al.
Skeletal dysplasia (SD) encompasses over 700 heterogeneous genetic conditions affecting the development, growth and maintenance of the human skeleton. Challenges regarding feeding, nutrition, and physical activity are reported across the li...
Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling [0.03%]
脊髓小脑共济失调儿童巨胆总管囊肿的潜在分子联系：细胞质钙信号异常所致
Hiromi Sumitomo,Tomoyuki Akiyama,Tadashi Kaname et al.
Hiromi Sumitomo et al.
The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool [0.03%]
下综合征关节炎的临床检测：下综合征特异性风湿筛查工具的多中心国际试点及可行性研究
Jordan T Jones,Nasreen Talib,Emily Cramer et al.
Jordan T Jones et al.
Down syndrome (DS) is associated with an increased risk for an inflammatory arthritis termed Down syndrome-associated arthritis (DA). Clinical awareness of DA may prevent morbidity, but there is currently no consensus approach to screen for...
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype [0.03%]
TSPEAR相关疾病患者的基因型和表型：以主要口腔表型为主的证据
Debora Vergani,Lucia Tiberi,Annarita Giliberti et al.
Debora Vergani et al.
TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss...
A Novel Variant in GLRA1 Associated With Emotional Stimulus-Sensitive Hemichoreic Movements [0.03%]
与情感刺激敏感的半偏身舞蹈症相关的GLRA1新突变
Martina Giuntini,Lucia Picchi,Gianfranco Cafforio et al.
Martina Giuntini et al.
We present the case of a 61-year-old woman with late-onset hyperkinetic movement disorder, characterized by involuntary, choreiform movements predominantly affecting the right limbs. Symptoms began at age 60 and were exacerbated by emotiona...
Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology [0.03%]
评估一种新的包容性下一代合成面部工具在形态学中的应用效果
Ludovic Benichou,Luan Breton,Nicolas Garcelon et al.
Ludovic Benichou et al.
Background Facial analysis tools can assist in diagnosing rare genetic syndromes, but their accuracy is limited in ultra-rare conditions and underrepresented ethnicities due to small, biased datasets. Synthetic facial images could enrich tr...