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Syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption
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Hypoplasia of the exocrine tissue of pancreas
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Trypsinogen deficiency and other proteolytic deficiency disease
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Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly
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Grand, R.J.1
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Johanson-Blizzard syndrome and Hypopituitarism
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Kristjansson K, Hoffman WH, Flannery DB, Cohen MJ. Johanson-Blizzard syndrome and Hypopituitarism. J Pediatr 1988;113(5):851-3.
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The Johanson-Blizzard syndrome
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8
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Johanson-Blizzard Syndrome: Clinical spectrum and further delineation of the syndrome
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Gershoni-Baruch R, Lerner A, Braun J, Katzir Y, Iancu TC, Benderly A. Johanson-Blizzard Syndrome: clinical spectrum and further delineation of the syndrome. Am J Med Genet 1990;35:546-51.
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Brief clinical report: Johanson-Blizzard syndrome with normal intelligence
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Moeschler, J.B.1
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Exocrine pancreatic insufficiency with congenital anomalies
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Johanson-Blizzard syndrome: A prenatal ultrasonographic diagnosis
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Auslander R, Nevo O, Diukman R, Morrad E, Bardicef M, Abramov. Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. Ultrasound Obstet Gynecol 1999;13:450-2.
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Severe intrauterine growth retardation, aged facial appearance and congenital heart disease in a newborn with Johanson-Blizzard syndrome
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Alpay F, Gul D, Lenk Mk, Ogur G. Severe intrauterine growth retardation, aged facial appearance and congenital heart disease in a newborn with Johanson-Blizzard syndrome. Pediatr Cardiol 2000;21:389-90.
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Johanson-Blizzard syndrome, a new case with autopsy finding
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Vanlieferinghen PFI, Borderon C, Francannet CFI, Gembara P, Dechelotte P. Johanson-Blizzard syndrome, a new case with autopsy finding. Genet Couns 2001;12:24.
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Vanlieferinghen, P.F.I.1
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