Miguel Del Campo,Julie A Kable,Claire D Coles et al.
Miguel Del Campo et al.
Objective: The diagnoses included within the umbrella term fetal alcohol spectrum disorders (FASD), are based on the documentation of prenatal alcohol exposure (PAE), growth deficits and a pattern of dysmorphic physical f...
Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach [0.03%]
罕见骨病患者从儿科到成人医疗保健过渡中的优先事项界定：对话方法
D Scognamiglio,M Boarini,M C la Forgia et al.
D Scognamiglio et al.
The Italian patient association for Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome, Associazione Conto Alla Rovescia-ACAR Aps, conducted a mixed-methods study at its 2023 annual conference. The study included the Open Dialo...
New description of an MRPS2 homozygous patient: Further features to help expend the phenotype [0.03%]
MRPS2基因纯合子患者的临床表型特征分析
Thalia Papadopoulos,Pauline Gaignard,Manuel Schiff et al.
Thalia Papadopoulos et al.
Mutated mito-ribosomal protein S2 (MRPS2) was already described in only three subjects, two with sensorineural hearing impairment, mild developmental delay, hypoglycemia, lactic acidemia and combined oxidative phosphorylation system deficie...
Samuel Mawuli Adadey,Joy Afua Mensah,Kojo Sekyi Acquah et al.
Samuel Mawuli Adadey et al.
Early-onset diabetes is poorly diagnosed partly due to its heterogeneity and variable presentations. Although several genes have been associated with the disease, these genes are not well studied in Africa. We sought to identify the major n...
Deepti Saxena,Amit K Tiwari,Rameshwar Prasad et al.
Deepti Saxena et al.
Non-immune hydrops fetalis (NIHF) is abnormal accumulation of serous fluid in ≥2 interstitial spaces with no evidence of maternal red cell alloimmunization. Leaving a few treatable conditions, it is generally considered as a sign of poor f...
Clinical and molecular features of four families with CLDN10-related HELIX syndrome [0.03%]
CLDN10相关HELIX综合征的临床及分子特征分析
Ahmad Qudair,Maged Hussein,Mohammed Alowain et al.
Ahmad Qudair et al.
Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. HELIX patients often present with heat intolerance and reduced ...
Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review [0.03%]
月桂酰辅酶A脱羧酶缺乏症心脏受累的病例研究及文献回顾
Emanuele Monda,Athanasios Bakalakos,Petros Syrris et al.
Emanuele Monda et al.
Background: Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, characterized by multi-organ involvement manifesting during the first few months of life. Our aim was to describe th...
Response to the comment on Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844) [0.03%]
对Diderich等关于“多学科团队在产前基因诊断中处理临床意义不明变异体的作用”一文的评论回复(EJMG 66(10),104844)
Karin E M Diderich,Jasmijn E Klapwijk,Vyne van der Schoot et al.
Karin E M Diderich et al.
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark [0.03%]
丹麦全国临床遗传网络(GENets)的建立——专家合作项目
Dorte L Lildballe,Anja Lisbeth Frederiksen,Bitten Schönewolf-Greulich et al.
Dorte L Lildballe et al.
Genetic conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow up across health...
Letter to the Editor: Comment to Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844) [0.03%]
致编辑的信：对Diderich等关于“产前基因诊断中多学科团队在处理临床意义不明变异中的作用”的评论(EJMG 66(10),104844)
Fang Chen,Dong-Zhi Li
Fang Chen