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Volumn 84, Issue 1, 2013, Pages 86-90
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OFD1 mutations in males: Phenotypic spectrum and ciliary basal body docking impairment
a,b c d a,e f a,e g h i j k l c m,n a o a,b c,o c,p a,q more.. |
Author keywords
[No Author keywords available]
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Indexed keywords
OFD1 PROTEIN;
PROTEIN;
UNCLASSIFIED DRUG;
ACCESSORY SPLEEN;
APRAXIA;
BRACHYDACTYLY;
BRONCHITIS;
CASE REPORT;
CENTROSOME;
CEREBELLUM HYPOPLASIA;
CEREBELLUM VERMIS;
CHILD;
CHRONIC SINUSITIS;
CILIARY BODY;
CILIATED EPITHELIUM;
CLINICAL FEATURE;
DYSKINESIA;
FRAMESHIFT MUTATION;
GENE MUTATION;
HAMARTOMA;
HEAD CIRCUMFERENCE;
HUMAN;
HYPOPLASIA;
IMMUNOHISTOCHEMISTRY;
JOUBERT SYNDROME;
KIDNEY TUBULE CELL;
KINETOSOME;
LETTER;
LIMB MALFORMATION;
MACROCEPHALY;
MALE;
MECKEL SYNDROME;
MENTAL DEFICIENCY;
MOLECULAR DOCKING;
NUCLEAR MAGNETIC RESONANCE IMAGING;
OBESITY;
POLYDACTYLY;
PRIORITY JOURNAL;
RESPIRATORY TRACT INFECTION;
RETINITIS PIGMENTOSA;
RETINOPATHY;
SCHOOL CHILD;
SIMPSON GOLABI BEHMEL SYNDROME;
SITUS INVERSUS;
STRABISMUS;
X CHROMOSOME LINKED DISORDER;
ABNORMALITIES, MULTIPLE;
ADOLESCENT;
BASAL BODIES;
CEREBELLAR DISEASES;
CHILD;
CHILD, PRESCHOOL;
CILIA;
EYE ABNORMALITIES;
GENETIC DISEASES, X-LINKED;
GENOTYPE;
HUMANS;
INFANT, NEWBORN;
KIDNEY DISEASES, CYSTIC;
MALE;
MUTATION;
OROFACIODIGITAL SYNDROMES;
PHENOTYPE;
PROTEINS;
RETINA;
YOUNG ADULT;
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EID: 84879837496
PISSN: 00099163
EISSN: 13990004
Source Type: Journal
DOI: 10.1111/cge.12013 Document Type: Letter |
Times cited : (32)
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References (7)
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