Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing.
Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.
Molly J
MJ
Youssef
Department of Dermatology, Mayo Clinic, Rochester, MN, USA.
Michael M
MM
Wolz
Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.
Malinda N
MN
Harris
GeneDx, Gaithersburg, MD, USA.
Gabrielle
G
Richard
Department of Dermatology, Mayo Clinic, Rochester, MN, USA.|Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA.
Alina G
AG
Bridges
Department of Dermatology, Mayo Clinic, Rochester, MN, USA.|Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA.
Carilyn N
CN
Wieland
Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.|Department of Dermatology, Mayo Clinic, Rochester, MN, USA.|Medical Genetics, Mayo Clinic, Rochester, MN, USA.
Jennifer L
JL
Hand
D001707:Biopsy, Needle; D000072700:Conservative Treatment; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D050612:Fatty Acid Transport Proteins / Q000235:genetics*; D005500:Follow-Up Studies; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D007150:Immunohistochemistry; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D007634:Keratitis / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation; D012720:Severity of Illness Index
D050612:Fatty Acid Transport Proteins; C493571:SLC27A4 protein, human