Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-ruvalcaba Syndrome

C Louren?o; M Yak?c?er; T Acun; W Marques; Y Soysal

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Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-ruvalcaba Syndrome

机译：Pten突变患者的严重特征是肌肉血管瘤病：扩大Bannayan-Riley-ruvalcaba综合征的血管畸形的表型。

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《Balkan journal of medical genetics: BJMG》 |2012年第1期|共页
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C Louren?o; M Yak?c?er; T Acun; W Marques; Y Soysal;
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1. MUSCLE HEMANGIOMATOSIS PRESENTING AS A SEVERE FEATURE IN A PATIENT WITH THE PTEN MUTATION: EXPANDING THE PHENOTYPE OF VASCULAR MALFORMATIONS IN BANNAYAN-RILEY-RUVALCABA SYNDROME [J] . Soysal Y, Acun T, Lourenco CM, Balkan journal of medical genetics: BJMG . 2012,第1期

机译：具有PTEN突变的患者表现出的肌肉血肿形成的严重特征：扩大BANNAYAN-RILEY-RUVALCABA综合征的血管畸形表型
2. Two patients with the heterozygous R189H mutation in ACTA2 ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome [J] . Logeswaran Thushiha, Friedburg Christoph, Hofmann Karoline, American journal of medical genetics, Part A . 2017,第9期

机译：acta2 acta2和复杂的先天性心脏缺陷中的两名杂合子R189H突变突变扩大了多系统平滑肌功能障碍综合征的心脏表型
3. Two patients with the heterozygous R189H mutation in ACTA2 ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome [J] . Logeswaran Thushiha, Friedburg Christoph, Hofmann Karoline, American journal of medical genetics, Part A . 2017,第4期

机译：acta2 acta2和复杂的先天性心脏缺陷中的两名杂合子R189H突变突变扩大了多系统平滑肌功能障碍综合征的心脏表型
4. T Cell Alterations and Clinical Features of 106 Patients with Severe Acute Respiratory Syndrome (SARS) [C] . . -1

机译：106例严重急性呼吸系统综合症（SARS）患者的T细胞改变和临床特征
5. Posterior fossa malformations and other CNS abnormalities observed in patients diagnosed with Beckwith-Wiedemann Syndrome [D] . Gardiner, Kate 2011

机译：在诊断为Beckwith-Wiedemann综合征的患者中观察到后颅窝畸形和其他CNS异常
6. Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-Ruvalcaba Syndrome [O] . Y Soysal, T Acun, CM Lourenço, 2012

机译：Pten突变患者的严重表现为肌肉血管瘤病：扩大Bannayan-Riley-Ruvalcaba综合征的血管畸形的表型。
7. Muscle Hemangiomatosis presenting as a severe feature in a patient with the pten mutation: Expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome [O] . Soysal Y., Acun T., Lourenço C.M., Marques Jr. W., Yakicier M.C. 2012

机译：肌血管瘤病是pten突变患者的严重特征：扩大bannayan-riley-ruvalcaba综合征的血管畸形表型

Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-ruvalcaba Syndrome

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