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- Katherine Small, Howard Ginsburg, M Alba Greco, Carmen Sarita-Reyes, Gabriel Kupchik, and Francine Blei.
- Department of Pediatrics, NYU Medical Center, New York, New York 10016, USA.
- Lymphat Res Biol. 2008 Jan 1; 6 (1): 39-44.
AbstractConsanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.
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