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Author/Creator Lah, Melissa

1. A distinct X‐linked syndrome involving joint contractures, keloids, large optic cup‐to‐disc ratio, and renal stones results from a filamin A (FLNA) mutation. Issue 4 (24th January 2016)

Authors:
Lah, Melissa; Niranjan, Tejasvi; Srikanth, Sujata; Holloway, Lynda; Schwartz, Charles E.; Wang, Tao; Weaver, David D.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 4(2016)
Page Start:
881
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?. (23rd February 2015)

Authors:
Jackson, Jessica; Delk, Paula; Farrow, Emily; Griffith, Christopher; Lah, Melissa; Weaver, David D.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 4(2015:Apr.)
Page Start:
683
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗