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Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

✍ Scribed by A.C. Thomas; C. Sinclair; N. Mahmud; T. Cullup; J.E. Mellerio; J. Harper; B.A. Dale; C. Turc-Carel; D. Hohl; J.A. McGrath; A. Vahlquist; M. Hellstrom-Pigg; A. Ganemo; K. Metcalfe; C.A. Mein; E.A O’Toole; D.P. Kelsell

Book ID
108669765
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
112 KB
Volume
158
Category
Article
ISSN
0007-0963

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Ultrasonic prenatal diagnosis of congenital diaphragmatic hernia has been reported by several centers. 1-5 Identification of abdominal organs in the thoracic cavity, above the diaphragm and adjacent to the fetal heart, is a reliable indicator of congenital diaphragmatic hernia. In some instances the