B1 Vertaisarvioimaton kirjoitus tieteellisessä lehdessä
Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man
Tekijät: Arvio Maria, Lähdetie Jaana
Kustantaja: WILEY
Julkaisuvuosi: 2021
Journal: American Journal of Medical Genetics Part A
Tietokannassa oleva lehden nimi: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Lehden akronyymi: AM J MED GENET A
Sivujen määrä: 4
ISSN: 1552-4825
DOI: https://doi.org/10.1002/ajmg.a.62213
Verkko-osoite: https://doi.org/10.1002/ajmg.a.62213
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/58238935
We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. He is able to move on the floor in a sitting position. He seems happy and has not shown any behavioral or psychiatric symptoms. New signs not described in the literature before are accelerated growth after puberty and atypical sleeping position with upper body resting on legs.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
