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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1066 - 1070
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report... 
central demyelinating leukodystrophy | WS4 | peripheral demyelinating neuropathy | Waardenburg syndrome | Waardenburg–Shah syndrome | 22q duplication syndrome | DAX1 | DOMINANT | DELETION | Waardenburg-Shah syndrome | GENETICS & HEREDITY | CHROMOSOME-22 | MICE | MUTATIONS | SRY | Chromosome Duplication | Demyelinating Diseases - genetics | Humans | Hirschsprung Disease - genetics | African Americans | Male | Kidney Failure, Chronic - ethnology | Pelizaeus-Merzbacher Disease - ethnology | Waardenburg Syndrome - ethnology | Demyelinating Diseases - diagnosis | Kidney Failure, Chronic - pathology | Pelizaeus-Merzbacher Disease - pathology | Demyelinating Diseases - pathology | Hirschsprung Disease - ethnology | Chromosomes, Human, Pair 22 - chemistry | Kidney Failure, Chronic - diagnosis | Pelizaeus-Merzbacher Disease - genetics | Hirschsprung Disease - pathology | Waardenburg Syndrome - pathology | Pelizaeus-Merzbacher Disease - diagnosis | Kidney Failure, Chronic - genetics | Hirschsprung Disease - diagnosis | Waardenburg Syndrome - diagnosis | Demyelinating Diseases - ethnology | Waardenburg Syndrome - genetics | 46, XX Testicular Disorders of Sex Development | SOXE Transcription Factors - genetics | Hirschsprung's disease | Analysis | DNA microarrays | Genes | Index Medicus | PCWH | Sex reversal | and Hirschsprung disease | 22q11 duplication syndrome | neurocristopathies | SOX10 | XX male syndrome | disorders of sex development
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 07/2016, Volume 58, Issue 7, pp. 653 - 653
This commentary is on the original article by Sarret et al. on pages 706–713 of this issue. 
PEDIATRICS | CLINICAL NEUROLOGY | Atrophy | Brain | Neurodegenerative Diseases | Brain Diseases | Pelizaeus-Merzbacher Disease | Humans
Journal Article
9.