All individuals with variants in gene LTBP1

10 entries on 1 page. Showing entries 1 - 10.
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00081428 - - - - - China Han - - - - OPLL thoracic ossification of the ligamentum flavum, long regional at the thoracic spine 2 1 Xiaochen Qu
00081431 - - - - - China Han - - - - OPLL thoracic ossification of the ligamentum flavum, long regional at the thoracic spine 1 1 Xiaochen Qu
00395663 Fam1PatIV2 PubMed: Pottie 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - cutis laxa coarse face, no arched eyebrows, no proptosis, downslanted palpebral fissures, long eyelashes, no convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, no highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; no craniosynostosis; short stature; brachydactyly; clinodactyly; no syndactyly; joint hyperlaxity; genua vara; no learning difficulties; cardiac abnormalities; no hearing loss; no feeding problems/GER; urological abnormalities 1 1 Johan den Dunnen
00395664 Fam2PatV3 PubMed: Pottie 2021 5-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, no highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; no joint hyperlaxity; no genua vara; learning difficulties; cardiac abnormalities; hearing loss; no feeding problems/GER; no urological abnormalities 1 5 Johan den Dunnen
00395665 Fam2PatV4 PubMed: Pottie 2021 - F yes Pakistan - - - - - cutis laxa no coarse face, arched eyebrows, no proptosis, no downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, no sagging cheeks, no prominent nasolabial folds, no long philtrum, no thick lower lip vermillion, highly arched palate; cutis laxa; no deep palmar creases; no inguinal hernia; no craniosynostosis; short stature; brachydactyly; no clinodactyly; no syndactyly; no joint hyperlaxity; no genua vara; learning difficulties; no cardiac abnormalities; no hearing loss; no feeding problems/GER; no urological abnormalities 1 1 Johan den Dunnen
00395666 Fam2PatV8 PubMed: Pottie 2021 - M yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; no joint hyperlaxity; no genua vara; no learning difficulties; no cardiac abnormalities; hearing loss; no feeding problems/GER; no urological abnormalities 1 1 Johan den Dunnen
00395667 Fam2PatV9 PubMed: Pottie 2021 - F yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; no joint hyperlaxity; no genua vara; learning difficulties; no cardiac abnormalities; hearing loss; no feeding problems/GER; urological abnormalities 1 1 Johan den Dunnen
00395668 Fam3PatII1 PubMed: Pottie 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, no downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, highly arched palate; cutis laxa; deep palmar creases; inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; joint hyperlaxity; genua vara; no learning difficulties; cardiac abnormalities; no hearing loss; feeding problems/GER; no urological abnormalities 1 2 Johan den Dunnen
00395669 Fam3PatII2 PubMed: Pottie 2021 sister F yes Pakistan - - - - - cutis laxa coarse face, arched eyebrows, proptosis, no downslanted palpebral fissures, long eyelashes, convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, no prominent nasolabial folds, long philtrum, thick lower lip vermillion, highly arched palate; cutis laxa; deep palmar creases; no inguinal hernia; craniosynostosis; short stature; brachydactyly; clinodactyly; syndactyly; joint hyperlaxity; no genua vara; no learning difficulties; no cardiac abnormalities; no hearing loss; feeding problems/GER; no urological abnormalities 1 1 Johan den Dunnen
00395670 Fam4PatII1 PubMed: Pottie 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - cutis laxa coarse face, no arched eyebrows, proptosis, downslanted palpebral fissures, , convex nasal ridge, wide nasal bridge, broad tip nose, sagging cheeks, prominent nasolabial folds, long philtrum, thick lower lip vermillion, no highly arched palate; cutis laxa; deep palmar creases; no inguinal hernia; craniosynostosis; short stature; no brachydactyly; clinodactyly; no syndactyly; joint hyperlaxity; genua vara; no cardiac abnormalities; no hearing loss; feeding problems/GER; no urological abnormalities 1 1 Johan den Dunnen
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