Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

Clinical Genetics

Volumn 61, Issue 2, 2002, Pages 139-145

  Lebel, Robert Roger ^a,b   May, M ^c   Pouls, S ^b   Lubs, H A ^d   Stevenson, R E ^c   Schwartz, C E ^c  

^a Genetic Services   (United States)

^b ALEXIAN BROTHERS MEDICAL CENTER   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Aarskog syndrome; FGD1; Mental retardation; Mutation; Non syndromic XLMR; X chromosome

Indexed keywords

GROWTH FACTOR INDUCED KINASE; LEUCINE; PHOSPHOTRANSFERASE; PROLINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CASE REPORT; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; EXON; FAMILY; FOOT MALFORMATION; GENETIC RISK; GENITAL MALFORMATION; HETEROZYGOTE; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOTHER; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; SHORT STATURE; SKELETON MALFORMATION; SRC HOMOLOGY DOMAIN; X CHROMOSOME LINKAGE;

ADULT; EXONS; FAMILY HEALTH; FEMALE; GENE SILENCING; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; LEUCINE; MALE; MENTAL RETARDATION; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; SRC HOMOLOGY DOMAINS; SYNDROME; X CHROMOSOME;

EID: 0036488079     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610209.x     Document Type: Article

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