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Volumn 42, Issue 12, 2015, Pages 1212-1214
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Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375-376delAT
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Author keywords
[No Author keywords available]
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Indexed keywords
GROWTH HORMONE;
HABEKACIN;
MEROPENEM;
PETROLATUM;
LEUKOCYTE ELASTASE INHIBITOR;
SPINK5 PROTEIN, HUMAN;
ALOPECIA;
BACTERIUM IDENTIFICATION;
BODY WEIGHT DISORDER;
CASE REPORT;
CLINICAL FEATURE;
DISEASE SEVERITY;
DISSEMINATED INTRAVASCULAR CLOTTING;
ENTERIC FEEDING;
ERYTHRODERMA;
EXON;
GENE;
GENE MUTATION;
GROWTH RETARDATION;
HOMOZYGOSITY;
HUMAN;
HYPERNATREMIA;
IMMUNOHISTOCHEMISTRY;
JAPANESE (PEOPLE);
LETTER;
MALE;
METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS;
NETHERTON DISEASE;
NEWBORN;
PANCREAS INSUFFICIENCY;
PHENOTYPE;
PSEUDOMONAS;
SERRATIA INFECTION;
SPINK5 GENE;
TRICHORRHEXIS;
XERODERMA;
ZINC DEFICIENCY;
ASIAN CONTINENTAL ANCESTRY GROUP;
FATALITY;
GENETICS;
HOMOZYGOTE;
INFANT;
JAPAN;
MUTATION;
ASIAN CONTINENTAL ANCESTRY GROUP;
FATAL OUTCOME;
HOMOZYGOTE;
HUMANS;
INFANT;
JAPAN;
MALE;
MUTATION;
NETHERTON SYNDROME;
PHENOTYPE;
PROTEINASE INHIBITORY PROTEINS, SECRETORY;
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EID: 84955193957
PISSN: 03852407
EISSN: 13468138
Source Type: Journal
DOI: 10.1111/1346-8138.13090 Document Type: Letter |
Times cited : (9)
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References (5)
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