Two siblings with PEX11B-related peroxisome biogenesis disorder [0.03%]
与PEX11B相关的过氧化物体生成障碍的两例Sibling病例
Somayeh Khoddam,Neda Kamal,Amirmasoud Shiri et al.
Somayeh Khoddam et al.
The PEX11β gene contains four exons and encodes peroxisomal membrane protein 11β, which is involved in peroxisome proliferation and division. Pathogenic variants in this gene result in a rare genetic disorder with autosomal recessive inhe...
Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review [0.03%]
印度儿童因ANTXR1变异而出现新的产前GAPO综合征：表型扩展及文献回顾
Surya Balakrishnan,Iravathy Goud,Madhavi Latha Teegala
Surya Balakrishnan
GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. Certain additional features involving variou...
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study [0.03%]
α-甘露糖苷病患者长期临床评估——一个多中心研究
Engin Köse,Çiğdem Seher Kasapkara,Aslı İnci et al.
Engin Köse et al.
Background: Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, heari...
Multicenter Study
European journal of medical genetics. 2024 Apr:68:104927. DOI:10.1016/j.ejmg.2024.104927 2024
Imaging in osteogenesis imperfecta: Where we are and where we are going [0.03%]
成骨不全的影像学检查：我们从何处来，向何处去
S Gazzotti,R Sassi,M P Aparisi Gómez et al.
S Gazzotti et al.
Osteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features of OI include bone fragility and susceptibility to fractures, bone deformity, and diminished g...
A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis [0.03%]
重度脊柱侧凸的病因中的一种罕见的骨骼发育不良症：Diaphanospondylodysostosis（注意：专业术语可能无公认翻译，保留原名）
Tuğba Daşar,Adalet Elçin Yıldız,Gökhan Demirkıran et al.
Tuğba Daşar et al.
Diaphanospondylodysostosis is a rare genetic skeletal disorder caused by biallelic variants in the BMPER gene. The term, diaphanospondylodysostosis, includes ischiospinal dysotosis, which was previously known as a distinct entity with milde...
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families [0.03%]
基因组测序识别两个无关HHT家族中破坏ENG的9号染色体倒位
M Tusseau,M Eyries,N Chatron et al.
M Tusseau et al.
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a dominant inherited vascular disorder. The clinical diagnosis is based on the Curaçao criteria and pathogenic variants in the ENG and ACVRL1 genes ar...
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder [0.03%]
超越“语言延迟”：BRPF1相关障碍表型的扩展
Lottie D Morison,Olivia Van Reyk,Emma Baker et al.
Lottie D Morison et al.
Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We pro...
TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant [0.03%]
TBX5变异与心脏表型：文献系统回顾及1种新变异
Anne Kathrine Møller Nielsen,Anna Maria Dehn,Vibeke Hjortdal et al.
Anne Kathrine Møller Nielsen et al.
T-Box Transcription Factor 5 (TBX5) variants are associated with Holt-Oram syndrome. Holt-Oram syndrome display phenotypic variability, regarding upper limb defects, congenital heart defects, and arrhythmias. To investigate the genotype-phe...
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa [0.03%]
用asfotase alfa治疗成人低磷脂酶症显著的临床改善和神经性疼痛的消失
Zografia Zervou,Roel Plooij,Evert F S van Velsen et al.
Zografia Zervou et al.
Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP). Presentation varies largely, with increased severity usually occurring with ear...
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries [0.03%]
适用于发展中国家的一种低成本且准确的脊髓性肌萎缩症携带者筛查方法的开发
Yu Jiang,Zhenyu Luo,Wenrong Wang et al.
Yu Jiang et al.
Heterozygous carriers of the survival of motor neuron 1 (SMN1) gene deletion in parents account for approximately 95% of neonatal spinal muscular atrophy cases. Given the severity of the disease, professional organizations have recommended ...