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Alessandra Renieri, Gerhard Kluger, Steffen Berweck, Shan Tang, Katja Ahlbory, Peter Weber, Stefan Schilling, Katrien Jansen, Edda Haberlandt, Margherita Baldassarri, Francesca Mari, Cornelia Betzler, Celina von Stülpnagel, Benedikt Hofmeister

Neuropediatrics 2021;52(2):109-122

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Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.

Bartosz Rodziewicz, Mikołaj Kacperski, Kacper Kisiński, Marta Zawadzka, Anna Kalicka, Agnieszka Sawicka, Beata Lipska-Ziętkiewicz, Maria Mazurkiewicz-Bełdzińska

Biomolecules 2026;16(8):

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Novel pregnancy-triggered episodes of CAPOS syndrome.

Ian A Glass, Niranjana Natarajan, Thomas D Bird, Suman Jayadev, Irene J Chang, Margaret P Adam

American journal of medical genetics. Part A 2018;176(1):235-240

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Charcot's foot: newest findings on its pathophysiology, diagnosis and treatment.

D Raccah, L Molines, P Darmon

Diabetes & metabolism 2010;36(4):251-5

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Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Xue Wang, Qian Xin, Lin Li, Jiangxia Li, Changwu Zhang, Rongfang Qiu, Chenmin Qian, Hailing Zhao, Shan Shan, Yongchao Liu, Qiji Liu, Changshun Shao, Jie Dang, Xianli Bian, Yaoqin Gong

European journal of human genetics : EJHG 2015;22(9):1105-10

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Results for ""Foot Deformities""[mesh_terms]

The syndrome of proximal femur, fibula, and midline metatarsal long bone deficiencies.

Musculoskeletal manifestations of diabetes mellitus.

Two novel GJA1 variants in oculodentodigital dysplasia.

Effect of excessive body weight on foot arch changes in preschoolers a 2-year follow-up study.

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

Prevention of running injuries.

Foot and ankle surgery: considerations for the geriatric patient.

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

Clinical utility of dual-energy CT for evaluation of tophaceous gout.

ATP1A3-related disorders: An update.

Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.

Novel pregnancy-triggered episodes of CAPOS syndrome.

Charcot's foot: newest findings on its pathophysiology, diagnosis and treatment.

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Results for
""Foot Deformities""[mesh_terms]