Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers [0.03%]
儿童多重儿童期癌症的RB1基因胚系突变及TP53基因嵌合体突变案例报告
Ole Haubjerg Nielsen,Ulrik Kristoffer Stoltze,Pernille Axél Gregersen et al.
Ole Haubjerg Nielsen et al.
We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS)...
Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes [0.03%]
PAICS基因的复合杂合变异整合了之前描述的不同的表型
Luigi Monti,Federica Isidori,Emidio Capriotti et al.
Luigi Monti et al.
Biallelic variants in PAICS, one of the 10 genes involved in the de novo purine synthesis (DNPS), were originally associated with an extremely rare phenotype characterized by multiple and severe congenital abnormalities, such as polyhydramn...
Prenatal Diagnosis of a Splice-Site Variant in UBA2: Expanding the Clinical Spectrum of UBA2-Related Disease [0.03%]
UBA2相关疾病临床谱系的扩展：胎儿UBA2基因剪切位点变异的产前诊断
Victor Wakim,Stephen G Kaler,Edwin Guzman et al.
Victor Wakim et al.
We report a case of a paternally inherited novel splice site variant in a patient prenatally diagnosed with Aplasia Cutis Congenita and Ectrodactyly (ACCES) syndrome with isolated split hand and foot malformations confirmed at birth. Intraf...
Expanding the Neurological Phenotype of ZTTK Syndrome: A Case of Recurrent Acute Confusional Migraine [0.03%]
ZTTK综合征的神经系统表型扩大：复发性急性迷惑性偏头痛病例报告
Eugenio Zapata-Aldana,Joan Petanas Argemi,María José Vázquez Ares et al.
Eugenio Zapata-Aldana et al.
Acute confusional migraine (ACM) is an uncommon pediatric migraine variant characterized by transient confusion and agitation, nonspecific electroencephalographic changes, and normal bloodwork and neuroimaging. We present the first case of ...
An Adult Presentation of KIF11-Related MCLID Syndrome: Case Report and 40-Year Follow-Up [0.03%]
KIF11相关MCLID综合征的成人病例报告及40年随访
Thrishna Chathurvedula,Juvy Rabelas,Kareem Touleimat et al.
Thrishna Chathurvedula et al.
Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42-year-old female p...
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina [0.03%]
阿根廷低磷血症患者PHEX变异的特征及分析
Silvia Ávila,Sara Fernández,Maximiliano Zeballos et al.
Silvia Ávila et al.
Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contr...
Abidi Syndrome and Another Family With X-Linked Intellectual Disability Have TAF1 Variants and Reduced Phosphorylation of RNA Polymerase II Associated Protein 74 [0.03%]
ABDI综合征及另一家系的X连锁智能障碍与TAF1突变和RNA聚合酶II相关蛋白74磷酸化水平降低有关
Mei Han,Fatima Abidi,Cindy Skinner et al.
Mei Han et al.
Genetic alterations in TATA box binding protein-associated factor 1 (TAF1) have been found in an X-linked intellectual disability (XLID) syndrome with variable somatic features (OMIM 300966) and X-linked dystonia-Parkinsonism syndrome (OMIM...
Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report [0.03%]
用于治疗线粒体复合物I缺乏症患者的严重登革出血热的免疫调节疗法：病例报告
Audra N Iness,Ameya S Walimbe,Emily R Strouphauer et al.
Audra N Iness et al.
Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of...
Arthrogryposis With CNS Involvement in AFF3-Related KINSSHIP Syndrome: A Detailed Phenotypic Characterization From a Mexican Patient and Review of the Literature [0.03%]
AFF3相关KINSSHIM综合征的关节挛缩合并中枢神经系统受累：来自一名墨西哥患者的详细表型特征分析及文献综述
Thania Ordaz-Robles,Daniel Ramírez-García,Noémi Dahan-Oliel et al.
Thania Ordaz-Robles et al.
Arthrogryposis Multiplex Congenita (AMC) is a heterogeneous group of disorders characterized by multiple contractures, often associated with central nervous system (CNS) involvement. To date, advances in Next Generation Sequencing (NGS) hav...
From Hypotrichosis to Frontonasal Dysplasia: Expanding the Phenotypic Spectrum of ALX4 Variants [0.03%]
ALX4变异体表型谱的扩展：从假毛细血管扩张症到前鼻发育不全
Nicole Cesarato,Sheetal Kumar,Maria Wehner et al.
Nicole Cesarato et al.