3 Publications
2018
Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy
Bari, Omar⋅Bari, Omar⋅Bari, Omar⋅Skillman, Sarah⋅Skillman, Sarah⋅Skillman, Sarah⋅Lah, Melissa D⋅Lah, Melissa D⋅Lah, Melissa D⋅Haggstrom, Anita N⋅Haggstrom, Anita N and Haggstrom, Anita N
Pediatric Dermatology, vol. 35, (no. 4), pp. e218-e220, Jul/Aug 2018. | Journal Article
2016
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.
Lah, Melissa⋅Niranjan, Tejasvi⋅Srikanth, Sujata⋅Holloway, Lynda⋅Schwartz, Charles E⋅Wang, Tao and Weaver, David D
American journal of medical genetics. Part A, vol. 170A, (no. 4), pp. 881-890, April 2016. | Journal Article
2015
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?
Jackson, Jessica⋅Delk, Paula⋅Farrow, Emily⋅Griffith, Christopher⋅Lah, Melissa and Weaver, David D
American journal of medical genetics. Part A, vol. 167A, (no. 4), pp. 683-687, April 2015. | Journal Article