Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis
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چکیده
منابع مشابه
Congenital arthrogryposis associated with musculoskeletal defects in three newborn goats
Arthrogryposis as a congenital malformation that refers to the fixed flexion of one or more joints as a result of stiffness or limited movements of multiple joints, change of posture and limb function due to permanent contracture of joints and wasting of muscles that usually occur at early stage of gestation. This report describes congenital arthrogryposis associated with musculoskeletal defect...
متن کاملTruncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Arthrogryposis multiplex congenita (AMC) is characterized by the presence of multiple joint contractures resulting from reduced or absent fetal movement. Here, we report two unrelated families affected by lethal AMC. By genetic mapping and whole-exome sequencing in a multiplex family, a heterozygous truncating MAGEL2 mutation leading to frameshift and a premature stop codon (c.1996delC, p.Gln66...
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We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.
متن کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
congenital arthrogryposis associated with musculoskeletal defects in three newborn goats
arthrogryposis as a congenital malformation that refers to the fixed flexion of one or more joints as a result of stiffness or limited movements of multiple joints, change of posture and limb function due to permanent contracture of joints and wasting of muscles that usually occur at early stage of gestation. this report describes congenital arthrogryposis associated with musculoskeletal defect...
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ژورنال
عنوان ژورنال: Yearbook of Paediatric Endocrinology
سال: 2020
ISSN: 1662-4009
DOI: 10.1530/ey.17.1.2