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Capillary malformations in a child caused by a novel HRAS mutation.

  • Authors : van Gysel D; Department of Pediatrics, O.L. Vrouw Hospital Aalst, Aalst, Belgium.; Interdisciplinary Unit of Pediatric Dermatology, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.

Subjects: Port-Wine Stain*/Port-Wine Stain*/Port-Wine Stain*/genetics ; Vascular Malformations*/Vascular Malformations*/Vascular Malformations*/genetics ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/pathologyCapillary Malformations, Congenital, 1

  • Source: Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 289-291. Date of Electronic Publication: 2023 Nov 28.Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470

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Academic Journal

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Subjects: Musculoskeletal Abnormalities*/Musculoskeletal Abnormalities*/Musculoskeletal Abnormalities*/genetics ; Megalencephaly* ; Vascular Malformations*/Vascular Malformations*/Vascular Malformations*/diagnosis Megalencephaly cutis marmorata telangiectatica congenita

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63466. Date of Electronic Publication: 2023 Nov 10.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Difficulty in the Diagnosis of Biliary Atresia Splenic Malformation Syndrome In Utero.

  • Authors : So K; Department of Obstetrics and Gynecology, Kurume University School of Medicine.; Shinagawa T

Subjects: Biliary Atresia*/Biliary Atresia*/Biliary Atresia*/diagnosis ; Biliary Atresia*/Biliary Atresia*/Biliary Atresia*/complications ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/diagnosis

  • Source: The Kurume medical journal [Kurume Med J] 2023 Sep 25; Vol. 68 (3.4), pp. 265-268. Date of Electronic Publication: 2023 Jun 29.Publisher: Kurume Univ., School of Medicine Country of Publication: Japan NLM ID: 2985210R Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Multiple vascular malformations in a newborn.

  • Authors : Krcho P; Department of Pediatrics (Neonatology), Pavol Jozef Šafárik University, Košice, Slovak Republic.; Derco J

Subjects: Ductus Arteriosus, Patent*/Ductus Arteriosus, Patent*/Ductus Arteriosus, Patent*/diagnosis ; Ductus Arteriosus* ; Vascular Malformations*/Vascular Malformations*/Vascular Malformations*/diagnostic imaging

  • Source: Journal of neonatal-perinatal medicine [J Neonatal Perinatal Med] 2023; Vol. 16 (4), pp. 731-734.Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101468335 Publication Model: Print Cited Medium: Internet ISSN: 1878-4429

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[Abernethy malformation associated with COACH syndrome in a patient with TMEM67 mutation: a case report].

  • Authors : Zhu B; Department of Hepatology, the Fifth Medical Center,Chinese PLA General Hospital, Beijing 100039, China.; Tian H

Subjects: Abnormalities, Multiple* ; Coloboma*/Coloboma*/Coloboma*/complications ; Liver Diseases*/Liver Diseases*/Liver Diseases*/complications COACH syndrome

  • Source: Zhonghua nei ke za zhi [Zhonghua Nei Ke Za Zhi] 2022 Sep 01; Vol. 61 (9), pp. 1052-1055.Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 16210490R Publication Model: Print Cited Medium: Print ISSN: 0578-1426

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Academic Journal

Partial Anomalous Left Pulmonary Artery Anterior Versus Posterior Types: A Systematic Review.

  • Authors : Restrepo CS; Department of Radiology, UT Health San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229, USA.; Gonzalez TV

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/diagnosis ; Heart Defects, Congenital* ; Vascular Malformations*

  • Source: Tomography (Ann Arbor, Mich.) [Tomography] 2022 Jul 27; Vol. 8 (4), pp. 1947-1958. Date of Electronic Publication: 2022 Jul 27.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101671170 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-139X

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Academic Journal

Lung Hypoplasia Associated With Ring-Sling Complex Is Usually Right-Sided.

  • Authors : Ramaswamy M; Department of Cardiothoracic Surgery, Great Ormond Street Hospital, London, United Kingdom. Electronic address: .; Rudrappa S

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/surgery ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/surgery ; Lung Diseases*/Lung Diseases*/Lung Diseases*/complications Tracheal agenesis

  • Source: The Annals of thoracic surgery [Ann Thorac Surg] 2022 Mar; Vol. 113 (3), pp. 884-888. Date of Electronic Publication: 2021 Feb 16.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 15030100R Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.

  • Authors : Chang CA; Department of Medical Genetics, BC Women and Children's Hospital, Vancouver, British Columbia, Canada.; Perrier R

Subjects: Mosaicism* ; Mutation*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*pathology

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Sep; Vol. 185 (9), pp. 2829-2845. Date of Electronic Publication: 2021 May 30.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Coexistence of an aberrant right subclavian artery and anomalous origins of bilateral vertebral arteries: A case report.

  • Authors : Wu Y; Department of Ultrasonography, Yuxin Central Hospital.; Zhang H

Subjects: Abnormalities, Multiple*; Cardiovascular Abnormalities/Cardiovascular Abnormalities/Cardiovascular Abnormalities/*diagnosis ; Subclavian Artery/Subclavian Artery/Subclavian Artery/*abnormalities Aberrant subclavian artery

  • Source: Medicine [Medicine (Baltimore)] 2021 Mar 05; Vol. 100 (9), pp. e25043.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Portosystemic venous shunt in the patients with Fontan circulation.

  • Authors : Nagata H; Department of Pediatric, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi- ku, Fukuoka, 812-8582, Japan. .; Sakamoto I

Subjects: Abnormalities, Multiple*; Fontan Procedure/Fontan Procedure/Fontan Procedure/*methods ; Heart Defects, Congenital/Heart Defects, Congenital/Heart Defects, Congenital/*surgery

  • Source: Heart and vessels [Heart Vessels] 2021 Feb; Vol. 36 (2), pp. 285-290. Date of Electronic Publication: 2020 Aug 25.Publisher: Springer Verlag Country of Publication: Japan NLM ID: 8511258 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  214 results for ""Blood Vessels abnormalities""