140 related articles for article (PubMed ID: 28075028)
1. A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.
Baumann M; Steichen-Gersdorf E; Krabichler B; Müller T; Janecke AR
Clin Genet; 2017 Jul; 92(1):86-90. PubMed ID: 28075028
[TBL] [Abstract][Full Text] [Related]
2. Biallelic SEMA3A defects cause a novel type of syndromic short stature.
Hofmann K; Zweier M; Sticht H; Zweier C; Wittmann W; Hoyer J; Uebe S; van Haeringen A; Thiel CT; Ekici AB; Reis A; Rauch A
Am J Med Genet A; 2013 Nov; 161A(11):2880-9. PubMed ID: 24124006
[TBL] [Abstract][Full Text] [Related]
3. Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Gileta AF; Helgeson ML; Leonard JMM; Pyle LC; Subramanian HP; Arndt K; Hawkes CP; Del Gaudio D
Am J Med Genet A; 2021 Mar; 185(3):889-893. PubMed ID: 33369061
[TBL] [Abstract][Full Text] [Related]
4. Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.
Pogue R; Marques FA; Kopacek C; Rosa RCM; Dorfman LE; Mazzeu JF; Flores JAM; Zen PRG; Rosa RFM
Am J Med Genet A; 2017 May; 173(5):1152-1158. PubMed ID: 28371255
[TBL] [Abstract][Full Text] [Related]
5. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
Dikoglu E; Simsek-Kiper PO; Utine GE; Campos-Xavier B; Boduroglu K; Bonafé L; Superti-Furga A; Unger S
Am J Med Genet A; 2013 Dec; 161A(12):3161-5. PubMed ID: 24039145
[TBL] [Abstract][Full Text] [Related]
6. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M; Paracha SA; Serretti A; Sarwar MT; Khan J; Ranza E; Falconnet E; Iwaszkiewicz J; Shah SF; Qaisar AA; Santoni FA; Zoete V; Megarbane A; Ahmed J; Colombo R; Makrythanasis P; Antonarakis SE
Hum Mol Genet; 2019 Mar; 28(6):972-979. PubMed ID: 30481285
[TBL] [Abstract][Full Text] [Related]
7. Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
Baumann M; Steichen-Gersdorf E; Krabichler B; Petersen BS; Weber U; Schmidt WM; Zschocke J; Müller T; Bittner RE; Janecke AR
Eur J Hum Genet; 2017 Feb; 25(2):262-266. PubMed ID: 27782104
[TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
Intarak N; Theerapanon T; Thaweesapphithak S; Suphapeetiporn K; Porntaveetus T; Shotelersuk V
Mol Genet Genomics; 2019 Jun; 294(3):773-787. PubMed ID: 30887145
[TBL] [Abstract][Full Text] [Related]
9. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass L; Abbs S; Armstrong R; Baujat G; Behzadi G; Berentsen RD; Burren C; Calder A; Cormier-Daire V; Newbury-Ecob R; Foulds N; Juliusson PB; Kant SG; Lefroy H; Mehta SG; Merckoll E; Michot C; Monsell F; Offiah AC; Richards A; Rosendahl K; Rustad CF; Shears D; Tveten K; Wellesley D; Wordsworth P; ; Smithson S
Am J Med Genet A; 2019 Sep; 179(9):1884-1894. PubMed ID: 31313512
[TBL] [Abstract][Full Text] [Related]
10. Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature.
Yuan P; He Z; Sun S; Li Y; Wang W; Liang X; Xie X; Jiang Y; Yang D
Clin Genet; 2019 Mar; 95(3):409-414. PubMed ID: 30474133
[TBL] [Abstract][Full Text] [Related]
11. Extending the spectrum of distal arthrogryposis.
Gripp KW; Scott CI; Brockett BC; Nicholson L; Mackenzie WG
Am J Med Genet; 1996 Nov; 65(4):286-90. PubMed ID: 8923937
[TBL] [Abstract][Full Text] [Related]
12. Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
Shaheen R; Al-Owain M; Khan AO; Zaki MS; Hossni HA; Al-Tassan R; Eyaid W; Alkuraya FS
Clin Genet; 2014 Jun; 85(6):568-72. PubMed ID: 23829171
[TBL] [Abstract][Full Text] [Related]
13. Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.
Kaur R; Siddiqui I; Mathur V; Jana M; Kabra M; Gupta N
Am J Med Genet A; 2020 Aug; 182(8):1944-1946. PubMed ID: 32432408
[TBL] [Abstract][Full Text] [Related]
14. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
Ling TT; Sorrentino S
Am J Med Genet A; 2016 Jan; 170A(1):217-9. PubMed ID: 26374271
[TBL] [Abstract][Full Text] [Related]
15. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
Parry DA; Logan CV; Stegmann AP; Abdelhamed ZA; Calder A; Khan S; Bonthron DT; Clowes V; Sheridan E; Ghali N; Chudley AE; Dobbie A; Stumpel CT; Johnson CA
Am J Hum Genet; 2013 Dec; 93(6):1135-42. PubMed ID: 24290375
[TBL] [Abstract][Full Text] [Related]
16. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.
Tonoki H; Kishino T; Niikawa N
Am J Med Genet; 1990 May; 36(1):89-93. PubMed ID: 2333912
[TBL] [Abstract][Full Text] [Related]
17. Jarcho-Levin syndrome: unusual survival in a classical case.
McCall CP; Hudgins L; Cloutier M; Greenstein RM; Cassidy SB
Am J Med Genet; 1994 Feb; 49(3):328-32. PubMed ID: 8209895
[TBL] [Abstract][Full Text] [Related]
18. Autosomal-dominant inheritance of distal arthrogryposis.
McCormack MK; Coppola-McCormack PJ; Lee ML
Am J Med Genet; 1980; 6(2):163-9. PubMed ID: 7446562
[TBL] [Abstract][Full Text] [Related]
19. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J; Duplomb L; Phadke S; Eguether T; Saunier A; Avila M; Carmignac V; Bruel AL; St-Onge J; Duffourd Y; Pazour GJ; Franco B; Attie-Bitach T; Masurel-Paulet A; Rivière JB; Cormier-Daire V; Philippe C; Faivre L; Thauvin-Robinet C
Clin Genet; 2016 Dec; 90(6):509-517. PubMed ID: 27060890
[TBL] [Abstract][Full Text] [Related]
20. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
Yu Y; Yao R; Wang L; Fan Y; Huang X; Hirschhorn J; Dauber A; Shen Y
BMC Genomics; 2015 Sep; 16(1):701. PubMed ID: 26376624
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
