Publication
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP., ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet.44(5):575-80 2012 |
PubMed ID: 22522420 |
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Records Return:
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Catalog ID | Gender | Age at Sampling | Description | Collection_Type_id |
GM16192 | Male | 1 MO | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED) | GM |
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