A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 931-934

  Ma, Gwo Chin ^a,b   Ke, Yu Yuan ^a   Chang, Shun Ping ^a   Lee, Dong Jay ^a   Chen, Ming ^a,c,d,e  

^a CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^d NATIONAL CHUNG HSING UNIVERSITY   (Taiwan)

^e TUNGHAI UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; APNEA; CASE REPORT; CHILD; CHINESE; CYANOSIS; ENZYME ACTIVITY; GENE; GENE MUTATION; GENETIC SCREENING; GESTATIONAL AGE; GNPTAB GENE; HAIR ANALYSIS; HAIR COLOR; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HURLER SYNDROME; HYPOPLASIA; INFANT; INGUINAL HERNIA; LETTER; MALE; MUCOLIPIDOSIS TYPE 2; NEWBORN; OSTEOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEPTIC SHOCK;

ASIAN CONTINENTAL ANCESTRY GROUP; HAIR COLOR; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUCOLIPIDOSES; MUTATION; PHENOTYPE; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 79953307468     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33834     Document Type: Letter

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