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1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A Schanzer , MT Achleitner , D Trumbach , L Hubert , A Munnich , B Ahlemeyer , MM AlAbdulrahim , PA Greif , S Vosberg , B Hummer , RG Feichtinger , JA Mayr , SB Wortmann , H Aichner , S Rudnik-Schoneborn , A Ruiz , E Gabau , JP Sanchez , S Ellard , T Homfray , KL Stals , W Wurst , BA Neubauer , T Acker , SK Bohlander , C Asensio , C Besmond , FS Alkuraya , MD AlSayed , A Hahn , A Weber

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...

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ey0016.3-12 | New Genes | ESPEYB16

3.12. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A Stoupa , F Adam , D Kariyawasam , C Strassel , S Gawade , G Szinnai , A Kauskot , D Lasne , C Janke , K Natarajan , A Schmitt , C Bole-Feysot , P Nitschke , J Leger , F Jabot-Hanin , F Tores , A Michel , A Munnich , C Besmond , R Scharfmann , F Lanza , D Borgel , M Poalk , A Carre

To read the full abstract: EMBO Mol Med 2018;e9569:118TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...

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ESPE Yearbook of Paediatric Endocrinology

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

3.12. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

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