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Clinical Dysmorphology

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论文数18
被引数
期刊论文 18
发表时间
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Management of a four-generation family affected by GDF6 multiple synostoses syndrome type 4受GDF6多发性骨融合综合征4型影响的四代家庭的健康管理
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delete2026-04-01
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PREAI
deleteSteel, Edward; Wright, Jonathan; Coles, Rachel
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A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype一个来自核型正常的父亲、具有新发生的11pter重复8.9 Mb和11qter缺失6.4 Mb的染色体病例
deleteClinical Dysmorphology
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delete2026-04-01
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deletePakhathirathien, Pattima; Vaseenon, Hathaipat; Thammachote, Weerin; Songpatanasilp, Chayanist; Sinpitak, Praweena; Tocharoentanaphol, Chintana; Jinawath, Natini; Wattanasirichaigoon, Duangrurdee
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Fontaine progeroid syndrome into early adolescence: a case reportFontaine 早老综合征进入青春期早期：一份病例报告
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delete2026-04-01
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deleteManisha, Rani; Nilay, Mayank; Srinivasan, Varunvenkat M.; Rikhari, Pradeep
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Exploring ATP6V1B2-related disorders: a case report-based literature review探索ATP6V1B2相关疾病：基于病例报告的文献综述
deleteClinical Dysmorphology
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deleteMa, Tsz Ching Nadine; Shih, Fong Ying Connie; Ou, Min; Wu, Kwan Wai Phoebe; Yiu, Wing Chung; Ho, Stephanie Ka Lun; Cheng, Sze Wing Shirley; Luk, Ho Ming
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Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overviewKosaki过度生长综合征中反复出现的血小板源性生长因子受体β基因突变：分子与临床概述
deleteClinical Dysmorphology
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delete2026-04-01
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deleteGladkauskas, Titas; Cristea, Ileana; Mehrasa, Roya; Bruland, Ove; Rustad, Cecilie F.; Faivre, Laurence; Rodahl, Eyvind; Bredrup, Cecilie
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Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family在一个巴基斯坦家庭中鉴定出一种新型突变，该突变位于代谢型谷氨酸受体1上，可导致常染色体隐性遗传性小脑共济失调-13
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deleteAhmad, Shafeeq; Khan, Bushra; Shams, Hamza; Sao, Go Hun; Gul, Ambreen; Khang, Rin; Khan, Saadullah; Kalsoom, Umm-e
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STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case reportSTAG1发育障碍与急性淋巴细胞白血病相关：病例报告
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deleteHussain, Naveed; Sherlaw-Sturrock, Charlotte A.; Hartles-Spencer, Lorraine; Antoniadi, Thalia; Lam, Zena; Cooper, Nicola S.
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Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrumRafiq综合征在一名沙特患者中的研究：一种新型纯合MAN1B1基因变异（c.1118C>G；p.Pro373Arg）及扩展表型谱
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delete2026-04-01
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deleteRahbeeni, Zuhair; Alsalman, Munirah; Alhamoudi, Saad
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Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder新增病例报告支持功能丧失性CCNK变异是可识别的综合征性神经发育障碍的病因
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deleteChan, Joshua C. K.; Ho, Stephanie K. L.; Cheng, Shirley S. W.; Luk, Ho-Ming
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A de-novo frameshift variant in ZFHX4 associated with a recognisable neurodevelopmental disorder: a case reportZFHX4基因中的一个新生移码变异与一种可识别的神经发育障碍相关：一个病例报告
deleteCLINICAL DYSMORPHOLOGY
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delete2025-10-01
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deleteGoel, Himanshu; O'Donnell, Sheridan
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A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype一例4岁男孩的新型Al Kaissi综合征病例：脑积水的重要性日益增加并扩展表型
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deleteSheikh, Haaziq; Hussain, Naveed; Sabir, Ataf H.
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A new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndromeMowat-Wilson综合征患者中一例横纹肌肉瘤新病例
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delete2025-10-01
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deleteJacob, Jeeva; Quezada, Gerardo; Hildebrandt, Clara
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EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literatureEBF3相关的神经发育障碍：影响一位新加坡阿拉伯裔和马来裔个体的病例报告及文献综述
deleteClinical Dysmorphology
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deleteRamalingam, Chitra Gangadaran; Lim, Jiin Ying; Goh, Jeannette; Kam, Sylvia; Law, Hai Yang; Mislan, Nur Afiqah Binte Mohd; Ng, Ivy; Thomas, Terrence Gerard Sundram; Lim, Weng Khong; Mascarenhas, Sandra Sylvia; Jamuar, Saumya Shekhar
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First case report of STAG2-associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier motherSTAG2相关综合征性障碍的首例病例报告，该障碍由部分外显子缺失导致，该缺失由无症状嵌合携带者母亲遗传而来。
deleteCLINICAL DYSMORPHOLOGY
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deleteChan, Joshua C. K.; Wong, Tracy C. H.; Mo, Chung-Yin; Fung, Sharon T. H.; Cheng, Timothy H. T.; Cheng, Shirley S. W.; Luk, Ho-Ming
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Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder先天性及出生后表现于小脑颜面齿综合征：一种罕见的遗传性疾病
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deleteNerakh, Gayatri; Rachana, R. D.; Gurram, Sahitya
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Familial SIN3A-associated Witteveen-Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus一个中国家庭的家族性SIN3A相关Witteveen-Kolk综合征，伴有明显的表皮发育不全、早老样外观和早期发病的糖尿病 mellitus
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deleteChan, Joshua C. K.; Siu, Lisa L. P.; Ho, Stephanie K. L.; Cheng, Shirley S. W.; Luk, Ho-Ming
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Amnioreduction as a therapeutic strategy for MAGED2-related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal management羊水减量作为MAGED2相关巴特综合征的 therapeutic strategy：通过遗传指导的产前管理延长妊娠并改善结局
deleteClinical Dysmorphology
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delete2025-10-01
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deleteWu, Xiaoxia; Liu, Yang; Luo, Caiqun; Chen, Liyuan; Cao, Xiushu; Wang, Hui
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Traboulsi syndrome involving aortopathy: further evidence of the phenotypic overlap with Marfan syndromeTraboulsi综合征累及主动脉病变：进一步证据表明其表型与Marfan综合征存在重叠
deleteCLINICAL DYSMORPHOLOGY
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deleteMcClatchey, Martin A.; Gardner, Jennifer F.
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