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Pediatric Dermatology, ISSN 0736-8046, 11/2018, Volume 35, Issue 6, pp. e404 - e405
We present a case of an otherwise healthy infant with a localized patch of phylloid hypopigmentation bordered by terminal hairs on the back. We believe that... 
pigmentary disorders | genetic diseases/mechanisms | HYPERMELANOSIS | HYPOMELANOSIS | TRISOMY-13 | PEDIATRICS | DERMATOLOGY | Mole (Dermatology) | Hair | Babies | Pediatrics | Medical diagnosis | Pigmentation | Nevus | Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3158 - 3164
Journal Article
Human Genetics, ISSN 0340-6717, 1/2014, Volume 133, Issue 1, pp. 11 - 27
Journal Article
The Lancet, ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 758 - 767
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3161 - 3166
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 527 - 536
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2259 - 2275
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have... 
developmental disabilities | seizures | mastocytosis | hypotonia | whole exome sequencing | GNB1 | GENETICS & HEREDITY | SUBUNITS | GROSS MOTOR FUNCTION | Gene mutations | Genetic aspects | Seizures (Medicine) | Literature reviews | Genotype & phenotype | Mastocytosis | Phenotypes | Mosaicism | Dystonia | Mutation | Patients | Genotypes
Journal Article