Mutations of SMAD4 account for both LAPS and Myhre syndromes

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 6, 2012, Pages 1520-1521

  Lindor, Noralane M ^a   Gunawardena, Shanaka R ^b   Thibodeau, Stephen N ^b  

^a MAYO CLINIC   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; THREONINE;

ARTHROPATHY; BONE DYSPLASIA; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA FLANKING REGION; ECHOCARDIOGRAPHY; ENDOMETRIUM CANCER; GENE; GENETIC DISORDER; GROWTH RETARDATION; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; HYPOPLASIA; HYSTERECTOMY; JOINT MOBILITY; LAPS SYNDROME; LETTER; MISSENSE MUTATION; MUSCLE HYPERTROPHY; MUTATIONAL ANALYSIS; MYHRE RUVALCABA SYNDROME; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRIORITY JOURNAL; PROGNATHIA; RESPIRATORY FAILURE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SHORT STATURE; SMAD4 GENE; TRACHEA STENOSIS;

CRYPTORCHIDISM; FACIES; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HETEROZYGOTE; HUMANS; HYPERTROPHY; INTELLECTUAL DISABILITY; JOINT DISEASES; MUTATION; SMAD4 PROTEIN;

EID: 84861221507     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35374     Document Type: Letter

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