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Volumn 98, Issue 1, 2001, Pages 92-100
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Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome
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Author keywords
Anophthalmia; Chromosome region Xq27 Xq28; Linkage; Microphthalmia; Multiple congenital anomalies
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Indexed keywords
ADOLESCENT;
ADULT;
ANOPHTHALMIA;
ARTICLE;
CASE REPORT;
CHILD;
CHROMOSOMAL LOCALIZATION;
CHROMOSOME XQ;
CLINICAL FEATURE;
CONGENITAL HEART MALFORMATION;
EAR MALFORMATION;
FINGER MALFORMATION;
GENETIC LINKAGE;
GENETIC SCREENING;
HAPLOTYPE;
HETEROZYGOTE;
HUMAN;
LENZ MICROPHTHALMIA SYNDROME;
MALE;
MENTAL DEFICIENCY;
MICROCEPHALY;
MICROPHTHALMIA;
PATHOGENESIS;
PRIORITY JOURNAL;
SKELETON MALFORMATION;
UROGENITAL TRACT MALFORMATION;
X CHROMOSOME RECESSIVE INHERITANCE;
ABNORMALITIES, MULTIPLE;
ADOLESCENT;
ADULT;
CHILD;
CRANIOFACIAL ABNORMALITIES;
FAMILY HEALTH;
HAPLOTYPES;
HETEROZYGOTE;
HUMANS;
INFANT;
LINKAGE (GENETICS);
LOD SCORE;
MALE;
MENTAL RETARDATION;
MICROPHTHALMOS;
PEDIGREE;
PHYSICAL CHROMOSOME MAPPING;
X CHROMOSOME;
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EID: 0035152396
PISSN: 01487299
EISSN: None
Source Type: Journal
DOI: 10.1002/1096-8628(20010101)98:1<92::AID-AJMG1009>3.0.CO;2-O Document Type: Article |
Times cited : (34)
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References (15)
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