MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a family [0.03%]
MMP13相关 metaphysis 骨发育不全型1与佝偻病样表现的一家系
Sofia Thunström,Pavel Antonsson,Simon Stenberg et al.
Sofia Thunström et al.
Background: Metaphyseal anadysplasia 1, which includes Spondyloepimetaphyseal dysplasia Missouri type, is a rare autosomal dominant skeletal dysplasia characterized by short stature, mild limb deformities, and transient m...
COL12A1-related myopathic Ehlers-Danlos syndrome with Chiari I malformation: A clinical report [0.03%]
ⅩⅡ型胶原COL12A1基因突变导致的肌病型埃勒斯-当洛斯综合征并发小脑扁桃体下疝畸形：一例临床报道
Jun Shinmi,Hotake Takizawa,Yoshihiko Saito et al.
Jun Shinmi et al.
Myopathic Ehlers-Danlos syndrome (mEDS) is a rare connective tissue disorder caused by pathogenic variants in COL12A1. It is characterized by congenital muscle hypotonia, muscle atrophy, and age-related improvement. We report the first deta...
Reflex Sympathetic Dystrophy-Like unilateral Erythema Caused by a Germline SCN9A Variant [0.03%]
由 scn9a 基因胚系变异引起的类似反射交感神经营养不良的单侧红斑
Daisuke Nakato,Rieko Komatsu,Ikumi Ono et al.
Daisuke Nakato et al.
Reflex sympathetic dystrophy (RSD), currently categorized within the spectrum of complex regional pain syndrome (CRPS), is typically considered an acquired disorder characterized by disproportionate pain, erythema, and autonomic changes. In...
Laura Hansman,Jose Galan-Cadena,Victoria Bartlett et al.
Laura Hansman et al.
Monoallelic pathogenic variants consistent with Mendelian inheritance patterns causing congenital heart disease (CHD) have been increasingly identified as genetic testing, including genome sequencing (GS), has become more widely available w...
STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings [0.03%]
STAT3阴性主导型高IgE综合征：包含具有潜在治疗价值的基因组发现的病例报告
Aislinn S Bloom,Laura M Amendola,Nadjalisse Reynolds-Lallement et al.
Aislinn S Bloom et al.
Over the last two decades, diagnostic genetic testing for inborn errors of immunity has primarily relied on gene panel-based approaches organized by phenotype. In this report, we describe a patient with a clinical and molecular diagnosis of...
Letter to the editor: Comment on "Involvement of cranial nerves in ATTR Ile127Val amyloidosis" by Silva Batista JAD et al. (Eur J Med Genet. 2022 Jul;65(7):104524) and report of 3 new patients [0.03%]
读者来信：有关“ATTR Ile127Val淀粉样变性中颅神经受累”的评论（Silva Batista JAD等人，Eur J Med Genet. 2022 Jul;65(7):104524）及3例新患者的报告
Cleonisio Leite Rodrigues,Lara Albuquerque Brito,Hermany Capistrano Freitas
Cleonisio Leite Rodrigues
Cranial nerve involvement in hereditary transthyretin amyloidosis (ATTRv) remains an underrecognized manifestation, particularly in carriers of atypical variants. Silva Batista et al. (2022) expanded the phenotypic spectrum of the p.Ile127V...
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes [0.03%]
水平凝视麻痹进行性侧弯症候群(HGPPS)的ROBO3分子谱系及临床-神经影像表型研究
Mohammad Sadegh Shams Nosrati,Ferruccio Romano,Alireza Dostmohammadi et al.
Mohammad Sadegh Shams Nosrati et al.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by biallelic ROBO3 variants, characterized by congenital horizontal gaze restriction, early-onset scoliosis, and distinctive hindbrain ma...
Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort [0.03%]
遗传和临床适应性增强：Pontocerebellarhypoplasia的新型变异体识别及伊朗队列研究
Zahra Rezaei,Farnoosh Emami,Morteza Heidari et al.
Zahra Rezaei et al.
Pontocerebellar hypoplasia (PCH) comprises a group of rare neurodevelopmental disorders characterized by prenatal-onset cerebellar and pontine atrophy, often leading to severe motor and cognitive impairments. While advances in genetic diagn...
Lisanna Põlluaas,Stella Lilles,Aleksandr Peet et al.
Lisanna Põlluaas et al.
Spindlin Family Member 4 (SPIN4) is an epigenetic reader gene on the X chromosome. Its loss-of-function variant altering the WNT/β-catenin pathway was recently reported to cause a SPIN4-associated overgrowth syndrome in an extended family....
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant [0.03%]
携带新型SGCE变异的大家系中肌张力不全性肌阵挛的家族内变异性
Cyprian Popescu
Cyprian Popescu
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder most caused by pathogenic variants in SGCE, an imprinted gene subject to maternal silencing. While numerous pathogenic variants have been reported, the extent and ...