Open AccesseP006: Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion
Author(s) -
Holly Brown,
Benjamin Weil,
David Tegay,
Laura Rosa Pisani,
Peyman Bizargity
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.01.044
Subject(s) - homocystinuria , cystathionine beta synthase , medicine , arachnodactyly , hypotonia , ectopia lentis , short stature , genetics , haploinsufficiency , pediatrics , endocrinology , pathology , marfan syndrome , gene , biology , methionine , amino acid , phenotype
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom