Germinal mosaicism in Simpson-Golabi-Behmel syndrome [4]

Clinical Genetics

Volumn 72, Issue 4, 2007, Pages 384-386

  Romanelli, V ^a   Arroyo, I ^b   Rodriguez, J I ^a   Magano, L ^a   Arias, P ^a   Incera, I ^a   Gracia Bouthelier, R ^a   Lapunzina, Pablo ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b HOSPITAL SAN PEDRO DE ALCÁNTARA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLYPICAN; GLYPICAN 3; GLYPICAN 4; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; AUTOPSY; BIRTH WEIGHT; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DNA EXTRACTION; FAMILY STUDY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GERM LINE; HUMAN; HYDRAMNIOS; HYDRONEPHROSIS; KARYOTYPE; LETTER; MALE; MOSAICISM; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; RETE TESTIS; SEQUENCE ANALYSIS; SIMPSON GOLABI BEHMEL SYNDROME;

ABNORMALITIES; ADULT; CHROMOSOMES, HUMAN, X; FACIES; FAMILY HEALTH; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; MOSAICISM; PSEUDOHERMAPHRODITISM; RISK; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 34548590309     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00871.x     Document Type: Letter

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