ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0017.4-3 | Important for clinical practice | ESPEYB17

4.3. IGF2 Mutations

Y Masunaga , T Inoue , K Yamoto , Y Fujisawa , Y Sato , Y Kawashima-Sonoyama , N Morisada , K Iijima , Y Ohata , N Namba , H Suzumura , R Kuribayashi , Y Yamaguchi , H Yoshihashi , M Fukami , H Saitsu , M Kagami , T Ogata

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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